ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.422G>A (p.Ser141Asn)

gnomAD frequency: 0.00002  dbSNP: rs776226690
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000686839 SCV000814376 benign Charcot-Marie-Tooth disease axonal type 2O 2024-10-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317914 SCV000849933 likely benign Inborn genetic diseases 2020-03-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV001551632 SCV001772175 likely benign not provided 2020-01-06 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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