ClinVar Miner

Submissions for variant NM_001377299.1(NDUFS2):c.177C>T (p.Ala59=)

gnomAD frequency: 0.00003  dbSNP: rs755626092
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200534 SCV000251873 benign not specified 2014-07-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000914152 SCV001059314 likely benign not provided 2023-11-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003343693 SCV004048799 likely benign Mitochondrial complex 1 deficiency, nuclear type 6 2023-04-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003917798 SCV004739664 likely benign NDUFS2-related disorder 2019-05-20 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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