ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.1445C>G (p.Thr482Arg)

dbSNP: rs147372931
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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 RCV001410357 SCV001612403 likely benign Usher syndrome type 3B 2024-11-11 criteria provided, single submitter clinical testing
GeneDx RCV001773744 SCV002004287 uncertain significance not provided 2019-12-31 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004038062 SCV002755012 likely benign not specified 2019-12-20 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.

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