ClinVar Miner

Submissions for variant NM_014000.3(VCL):c.3092G>A (p.Arg1031Gln)

gnomAD frequency: 0.00004  dbSNP: rs397517238
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000803815 SCV000943701 uncertain significance Dilated cardiomyopathy 1W 2022-06-22 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 1031 of the VCL protein (p.Arg1031Gln). This variant is present in population databases (rs397517238, gnomAD 0.01%). This missense change has been observed in individual(s) with dilated cardiomyopathy (PMID: 27532257). ClinVar contains an entry for this variant (Variation ID: 45605). 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: "Benign"; 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.
Fulgent Genetics, Fulgent Genetics RCV002504903 SCV002814518 uncertain significance Dilated cardiomyopathy 1W; Hypertrophic cardiomyopathy 15 2021-08-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004017322 SCV004849345 uncertain significance Cardiovascular phenotype 2016-01-13 criteria provided, single submitter clinical testing The c.3092G>A (p.R1031Q) alteration is located in exon 20 (coding exon 20) of the VCL gene. This alteration results from a G to A substitution at nucleotide position 3092, causing the arginine (R) at amino acid position 1031 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038822 SCV000062500 uncertain significance not specified 2009-06-09 no assertion criteria provided clinical testing

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