ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.1865C>T (p.Ala622Val)

gnomAD frequency: 0.00012  dbSNP: rs199663609
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001478107 SCV001682365 likely benign Spinocerebellar ataxia type 19/22 2020-06-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298837 SCV003997227 likely benign Cardiovascular phenotype 2023-06-11 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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