ClinVar Miner

Submissions for variant NM_014000.3(VCL):c.2521G>A (p.Asp841Asn)

dbSNP: rs150385900
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002433060 SCV002742041 uncertain significance Cardiovascular phenotype 2016-01-05 criteria provided, single submitter clinical testing The p.D841N variant (also known as c.2521G>A), located in coding exon 17 of the VCL gene, results from a G to A substitution at nucleotide position 2521. The aspartic acid at codon 841 is replaced by asparagine, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003512185 SCV004284287 uncertain significance Dilated cardiomyopathy 1W 2023-06-18 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1792551). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 841 of the VCL protein (p.Asp841Asn). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with VCL-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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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