Table 1:
Gene variant | Protein | Age | Classification | Sex | Ethnicity | Case Information | Incidence in gnomAD | Other variant(s) |
---|---|---|---|---|---|---|---|---|
g.38798293G>T | L388M | 24 year | VUS | M | African-American | Decedent was playing in fire hydrant, collapsed and died. History of asthma. Autopsy negative | Novel | KCND3-Ala2Glu (VUS) DSP-Val2004Phe (VUS) TRPM4-Ser1143Gly (VUS) |
g.38781020G>A | R756W | 3 year | VUS | M | African-American | Found face down in partially filled bathtub. Recent gastrointestinal illness |
6/23,972 African 9/126,154 European (Non-Finnish) 15/150,126 Total (0.01%) |
None |
g.38770074G>A | L867F | 49 day | VUS | F | Hispanic | It was a sudden, unexpected crib death (found supine). Mother of child is 35Y old with a history of miscarriages. When she was 15Y, she had a baby who died at 2M old which was reported due to “pneumonia” at the time. | 7/34,322 Latino 1/24,022 African 8/274,720 Total (0.003%) |
None |
g.3:38764969G>A | P1102S | 2 day | VUS | M | Caucasian | Twin. Decedent was born at 38 weeks gestation. Decedent was noted to be holding his breath while eating, decedent was taken to hospital. Decedent was “floppy” with a faint pulse and agonal respirations. | 1/108,936 European (Non-Finnish) 1/243,332 Total (0.0004%) |
MYH7 p.Arg1344Gln |
g.38743435C>T | V1518I | 27 year | VUS | M | African- American |
Found unresponsive in bedroom right side up by mother. Slight to moderate four chamber dilation of the heart. | 14/24,032 African 1/18,864 East Asian 1/34,410 Latino 3/126,482 European (Non-Finnish) 1/6,464 Other 20/276,950 Total (0.007%) |
RyR2 p.Arg3190Gln |
g.38743435C>T | V1518I | 2 months | VUS | F | Caucasian | Found unresponsive while co-sleeping with mother in adult bed. | See above | None |
gnomAD searched on 2017–07–20. Variant classification by ACMG/AMP 2015 guidelines were made on http://wintervar.wglab.org/