ClinVar Miner

Submissions for variant NM_001042631.3(SDHAF1):c.22C>T (p.Gln8Ter)

dbSNP: rs1085307492
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489078 SCV000576580 likely pathogenic not provided 2017-04-27 criteria provided, single submitter clinical testing The Q8X variant in the SDHAF1 gene has been reported previously in the homozygous state in an individual with complex II deficiency (Ohlenbusch et al., 2012). This variant is predicted to cause loss of normal protein function through protein truncation. The Q8X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret Q8X as a likely pathogenic variant.
OMIM RCV001328002 SCV001519333 pathogenic Mitochondrial complex 2 deficiency, nuclear type 2 2021-03-15 no assertion criteria provided literature only

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