ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.1646G>A (p.Arg549His)

gnomAD frequency: 0.00016  dbSNP: rs35027371
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000243000 SCV000320526 likely benign Cardiovascular phenotype 2022-12-07 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000696815 SCV000825394 likely benign Spinocerebellar ataxia type 19/22 2025-01-20 criteria provided, single submitter clinical testing
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris RCV000696815 SCV001519148 likely pathogenic Spinocerebellar ataxia type 19/22 2021-07-12 criteria provided, single submitter research
Athena Diagnostics RCV004999188 SCV005621808 likely benign not specified 2024-08-09 criteria provided, single submitter clinical testing

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