ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.459C>T (p.Asn153=)

gnomAD frequency: 0.00009  dbSNP: rs367638447
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000245971 SCV000320521 likely benign Cardiovascular phenotype 2015-11-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV001087981 SCV000627549 likely benign Long QT syndrome 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV003165700 SCV003915297 uncertain significance not provided 2022-10-04 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown

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