ClinVar Miner

Submissions for variant NM_014000.3(VCL):c.2453T>A (p.Leu818Gln)

dbSNP: rs794727192
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175201 SCV000226645 uncertain significance not provided 2015-01-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001852143 SCV002188008 uncertain significance Dilated cardiomyopathy 1W 2021-12-10 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 818 of the VCL protein (p.Leu818Gln). 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. ClinVar contains an entry for this variant (Variation ID: 194760). 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.
Ambry Genetics RCV002444699 SCV002732778 uncertain significance Cardiovascular phenotype 2025-01-01 criteria provided, single submitter clinical testing The c.2453T>A (p.L818Q) alteration is located in exon 17 (coding exon 17) of the VCL gene. This alteration results from a T to A substitution at nucleotide position 2453, causing the leucine (L) at amino acid position 818 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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