ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.2T>C (p.Met1Thr)

gnomAD frequency: 0.00001  dbSNP: rs761378545
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000170850 SCV000223405 uncertain significance not provided 2024-12-16 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Initiation codon variant in a gene for which loss of function is not a known mechanism of disease; Has not been previously published in association with Timothy syndrome or LQTS to our knowledge; This variant is associated with the following publications: (PMID: 26637798)
Labcorp Genetics (formerly Invitae), Labcorp RCV000528382 SCV000627528 uncertain significance Long QT syndrome 2024-08-28 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the CACNA1C mRNA. The next in-frame methionine is located at codon 8. This variant is present in population databases (rs761378545, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with CACNA1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 190710). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002478534 SCV000896280 uncertain significance Timothy syndrome; Brugada syndrome 3; Long qt syndrome 8 2021-10-16 criteria provided, single submitter clinical testing
AiLife Diagnostics, AiLife Diagnostics RCV000170850 SCV002501225 uncertain significance not provided 2022-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV003165345 SCV003896169 likely benign Cardiovascular phenotype 2023-01-30 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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