ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.200G>A (p.Ser67Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001061899 SCV001226662 uncertain significance Long QT syndrome 2019-04-08 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 67 of the CACNA1C protein (p.Ser67Asn). The serine residue is weakly conserved and there is a small physicochemical difference between serine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CACNA1C-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Benign; 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.
Baylor Genetics RCV001332565 SCV001524935 uncertain significance Brugada syndrome 3 2019-08-28 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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