ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.457A>G (p.Ile153Val)

gnomAD frequency: 0.00003  dbSNP: rs140905741
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000526187 SCV000651647 likely benign Charcot-Marie-Tooth disease axonal type 2O 2024-01-21 criteria provided, single submitter clinical testing
GeneDx RCV001566306 SCV001789805 likely benign not provided 2020-11-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002341429 SCV002637442 likely benign Inborn genetic diseases 2018-05-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.

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