ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.318G>A (p.Pro106=)

gnomAD frequency: 0.00002  dbSNP: rs770807162
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001410054 SCV001612096 likely benign Spinocerebellar ataxia type 19/22 2019-09-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002322410 SCV002608175 likely benign Cardiovascular phenotype 2022-07-25 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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