ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.727C>T (p.Leu243=)

gnomAD frequency: 0.00001  dbSNP: rs769885163
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000614200 SCV000728193 likely benign not specified 2018-03-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Center for Human Genetics Tuebingen RCV001171759 SCV001334603 likely benign not provided 2020-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001493410 SCV001698037 likely benign Spinocerebellar ataxia type 19/22 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002385942 SCV002672898 likely benign Cardiovascular phenotype 2021-12-03 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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