ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.3949G>A (p.Ala1317Thr) (rs749588699)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620862 SCV000736117 uncertain significance Cardiovascular phenotype 2017-11-27 criteria provided, single submitter clinical testing Insufficient evidence
Ambry Genetics RCV000717959 SCV000848820 uncertain significance History of neurodevelopmental disorder 2017-11-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV001213243 SCV001384864 uncertain significance Long QT syndrome 2019-08-05 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 1317 of the CACNA1C protein (p.Ala1317Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs749588699, ExAC 0.01%). This variant has not been reported in the literature in individuals with CACNA1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 518751). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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