ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5534C>T (p.Thr1845Met)

dbSNP: rs779315017
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208304 SCV000263798 uncertain significance Long QT syndrome 2015-08-31 criteria provided, single submitter clinical testing
Invitae RCV000208304 SCV000812968 uncertain significance Long QT syndrome 2023-07-06 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CACNA1C protein function. ClinVar contains an entry for this variant (Variation ID: 222516). This variant has not been reported in the literature in individuals affected with CACNA1C-related conditions. This variant is present in population databases (rs779315017, gnomAD 0.0009%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 1845 of the CACNA1C protein (p.Thr1845Met).

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