TABLE 3.

Genetic analyses of patients with STel and VSTel

Patient ID	Telomere length	TRG mutation	Mutated gene	Zygosity	Variant	ACMG classificationa
5	VSTel	Absent	—	—	—	—
17	VSTel	Present	TERT	Heterozygous	NM_198253.2, c.2213C>T, (p.Thr738Met)	Likely pathogenic
18	VSTel	Present	RTEL1	Heterozygous Heterozygous	1) NM_032957.4, c.1553 + 5G>A, (p?) 2) NM_032957.4, c.3037C>T, (p.Arg1013Trp)	1) Likely pathogenic 2) VUS
19	VSTel	Present	RTEL1	Heterozygous	NM_032957.4, c.2320C>T, p.(Arg774Cys)	Likely pathogenic
20	VSTel	Present	RTEL1	Heterozygous	NM_032957.4, c.1720C>T, (p.Arg574Cys)	VUS
21	VSTel	Absent	—	—	—	—
22	VSTel	Absent		—	—	—
2	STel	Absent	—	—	—	—
3	STel	Absent	—	—	—	—
4	STel	Present	DKC1	Heterozygous	NM_001363.5, c.1462G>A, (p.Glu488Lys)	VUS
8	STel	Absent	—	—	—	—
10	STel	Absent	—	—	—	—
11	STel	Absent	—	—	—	—
12	STel	Absent	—	—	—	—
14	STel	Absent	—	—	—	—
16	STel	Absent	—	—	—	—

^a See reference³⁹.

Abbreviations: STel, short telomere length; TRG, telomere-related gene; VSTel, very short telomere length; VUS, variant of unknown significance.