ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.1031C>T (p.Thr344Ile)

dbSNP: rs200935321
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000171611 SCV000050644 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Invitae RCV002517653 SCV003466728 uncertain significance Long QT syndrome 2022-11-20 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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: 191419). This variant has not been reported in the literature in individuals affected with CACNA1C-related conditions. This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 344 of the CACNA1C protein (p.Thr344Ile).

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