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. Author manuscript; available in PMC: 2020 Aug 1.
Published in final edited form as: Forensic Sci Int. 2019 May 29;301:289–298. doi: 10.1016/j.forsciint.2019.05.042

Table 1:

Variants in SCN10A associated with SUD

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/