ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.6161A>G (p.Lys2054Arg) (rs200588235)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178619 SCV000230734 uncertain significance not provided 2014-06-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000373284 SCV000377929 uncertain significance Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278729 SCV000377930 uncertain significance Timothy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619563 SCV000737416 uncertain significance Cardiovascular phenotype 2017-03-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000801058 SCV000940814 uncertain significance Long QT syndrome 2018-10-15 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 2054 of the CACNA1C protein (p.Lys2054Arg). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs200588235, ExAC 0.1%). This variant has not been reported in the literature in individuals with CACNA1C-related disease. ClinVar contains an entry for this variant (Variation ID: 197560). 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 arginine 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. 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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