Table 2.

Demographics, Laboratory Values, and Variant Burden of Heterozygous Carriers of Rare CASR Missense Variants

Sex	Age (year)	Mean Serum Ca mg/dLa(# measures) [range]	Median Serum Caalbmg/dL	Mean Urinary Ca gb(# measures)	PTH pg/mLc(# measures) [range]
c.69C>A (p.Asp23Glu)
M	64	8.25 ± 0.4 (18) [7.5–8.8]	8.16	N/A	N/A
c.965T>C (p.Leu322Pro)
F	55	7.8 ± 0.6 (12) [6.9–8.5]	7.49	N/A	28.8
M	79	8.6 ± 0.9 (54) [7.5–9.1]	7.5	N/A	14.7 ± 6.6 (7) [7–26]
c.55G>C (p.Ala19Pro)
M	69	10.23 ± 0.4 (10) [9.5–10.6]	N/A	N/A	N/A
F	35	10.3 (1)	N/A	N/A	N/A
c.197G>A (p.Arg66His)
M	82	10.5 ± 0.5 (80) [8.5–11.4]	10.62	N/A	94 (1)
F	60	10.43 ± 0.3 (5) [10.3–10.7]	N/A	N/A	N/A
c.220A>C (p.Met74Leu)
M	63	10.6 ± 0.4 (2) [10.3–10.9]	N/A	N/A	N/A
c.1183T>C (p.Cys395Arg)
F	65	10.8 ± 0.4 (16) [9.9–11.6]	10.64	0.100 (1)	49.5 ± 16.5 (11) [21–77]
F	40	10.94 ± 0.5 (9) [10.1–11.3]	N/A	0.12 ± 0.019 (2)	29 ± 7.4 (9) [18–43]
M	44	10.9 ± 0.4 (13) [10.3–11.5]	10.25	N/A	34 (1)
c.1197G>C (p.Glu399Asp)
F	55	10.2 ± 0.4 (5) [9.8–10.6]	N/A	N/A	N/A
c.1250C>G (p.Ser417Cys)
M	55	10.1 ± 0.3 (24) [9.6–10.8]	9.8	N/A	12.5 ± 3.5 (2) [10–15]
F	23	N/A	N/A	N/A	N/A
M	65	10.4 ± 0.6 (5) [9.8–11.3]	N/A	N/A	N/A
F	70	9.87 ± 0.3 (3) [9.7–10.2]	N/A	N/A	70.5 ± 23.3 (2) [54–87]
F	42	10.1 ± 0.3 (3) [9.8–10.4]	N/A	N/A	N/A
c.1288G>A (p.Ala430Thr)
F	70	10.1 ± 0.3 (16) [9.7–11.0]	9.8	N/A	N/A
M	72	10.4 ± 0.3 (65) [9.7–11.0]	10.28	N/A	33 (1)
c.1309T>C (p.Cys437Arg)
M	85	11.1 ± 0.4 (46) [10.2–11.9]	11.18	0.131 ± 0.01 (2)	33.5 ± 10.8 (4) [18–41]
F	73	9.4 ± 0.3 (6) [9.0–9.7]	N/A	N/A	127 (1)
c.1979T>C (p.Leu660Pro)
F	65	10.8 ± 0.4 (27) [9.6–11.4]	10.76	0.06 ± 0.03 (2)	43.7 ± 7.8 (9) [33–53]
c.2068C>T (p.Arg690Cys)
F	76	9.86 ± 0.4 (27) [8.8–10.5]	9.65	N/A	N/A
c.2205C>G (p.Phe735Leu)
F	69	10.0 ± 0.27 (17) [9.7–10.8]	9.68	N/A	N/A
c.2435A>G (p.Asn812Ser)
F	64	9.9 ± 0.4 (54) [9–10.7]	9.12	N/A	N/A
M	43	10.0 ± 0.3 (25) [9.5–10.6]	9.58	N/A	N/A

We present both mean serum Ca, and when available, albumin-corrected median serum Ca values, urinary Ca, and serum PTH values. N/A, no measures available in the EHR. No individuals were treated with cinacalcet or vitamin D during the time period of serum Ca measures. Genomic variants are designated relative to the CASR reference sequence (GenBank: NM_001178065.2).

^aNormal range for serum Ca is 8.5–10.2 mg/dL.

^bNormal range for urinary Ca is 0.1–0.25 g/24 h.

^cReference range for intact serum PTH is 15–65 pg/mL.