ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.447A>G (p.Glu149=)

dbSNP: rs1297869395
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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 RCV000685654 SCV000813142 likely benign Long QT syndrome 2022-11-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV003303108 SCV004005091 likely benign Cardiovascular phenotype 2023-06-05 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.
PreventionGenetics, part of Exact Sciences RCV003411592 SCV004112734 uncertain significance CACNA1C-related disorder 2023-03-16 criteria provided, single submitter clinical testing The CACNA1C c.447A>G variant is not predicted to result in an amino acid change (p.=). This variant may introduce a cryptic splice site based on splicing prediction programs (Alamut Visual Plus v.1.6.1). However, these prediction programs are not equivalent to functional evidence. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant has been interpreted as likely benign by a single submitter in ClinVar (https://preview.ncbi.nlm.nih.gov/clinvar/variation/565959/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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