ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.1492T>C (p.Leu498=)

gnomAD frequency: 0.00001  dbSNP: rs762528364
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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 RCV002139028 SCV002466572 likely benign Spinocerebellar ataxia type 19/22 2021-08-24 criteria provided, single submitter clinical testing
GeneDx RCV002291799 SCV002584160 uncertain significance not provided 2022-04-11 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this variant does not alter splicing
Ambry Genetics RCV002391328 SCV002701990 likely benign Cardiovascular phenotype 2021-12-02 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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