ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.6323C>T (p.Ala2108Val)

dbSNP: rs1453140106
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000541000 SCV000627589 uncertain significance Long QT syndrome 2017-06-18 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 2108 of the CACNA1C protein (p.Ala2108Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CACNA1C-related disease. This variant is not present in population databases (ExAC no frequency).

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