ClinVar Miner

Submissions for variant NM_005006.7(NDUFS1):c.2084A>G (p.Tyr695Cys)

gnomAD frequency: 0.00002  dbSNP: rs773465401
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001756512 SCV001985328 uncertain significance not provided 2020-03-03 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22200994)

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