ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.1558G>A (p.Ala520Thr) (rs755167125)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000305867 SCV000377790 uncertain significance Timothy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000353223 SCV000377791 uncertain significance Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000704148 SCV000833086 uncertain significance Long QT syndrome 2018-05-18 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 520 of the CACNA1C protein (p.Ala520Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs755167125, ExAC 0.03%). This variant has not been reported in the literature in individuals with CACNA1C-related disease. ClinVar contains an entry for this variant (Variation ID: 308135). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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