ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.1722G>T (p.Lys574Asn)

dbSNP: rs1568469515
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000706690 SCV000835757 uncertain significance Long QT syndrome 2019-04-23 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with asparagine at codon 574 of the CACNA1C protein (p.Lys574Asn). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and asparagine. This variant has not been reported in the literature in individuals with CACNA1C-related disease. 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: "Deleterious"; PolyPhen-2: "Probably 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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