ClinVar Miner

Submissions for variant NM_014000.3(VCL):c.1559G>A (p.Arg520Gln)

dbSNP: rs757009736
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208082 SCV000264315 uncertain significance not specified 2015-09-09 criteria provided, single submitter clinical testing
Invitae RCV000695502 SCV000824007 uncertain significance Dilated cardiomyopathy 1W 2022-10-03 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 520 of the VCL protein (p.Arg520Gln). This variant is present in population databases (rs757009736, gnomAD 0.006%). This missense change has been observed in individual(s) with hypertrophic cardiomyopathy (Invitae). ClinVar contains an entry for this variant (Variation ID: 222888). 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: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). 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.
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute RCV000991075 SCV001142211 uncertain significance Cardiac arrest 2017-03-17 criteria provided, single submitter research The VCL Arg520Gln is absent in the large Exome Aggregation Consortium dataset ( Arginine (Arg) at position 520 is highly conserved across distantly related species, and computational prediction tools are supportive of a deleterious effect (SIFT "deleterious"; PolyPhen-2 "probably damaging"; MutationTaster "disease-causing"). We have identified this variant in 1 patient who had an unexplained resuscitated cardiac arrest event. The patient has no family history of a genetic heart condition or sudden cardiac death. Based on limited available information and rarity in the general population, we classify VCL Arg520Gln as a variant of "uncertain significance".
Mayo Clinic Laboratories, Mayo Clinic RCV003480555 SCV004225278 uncertain significance not provided 2023-02-06 criteria provided, single submitter clinical testing

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