ClinVar Miner

Submissions for variant NM_014000.3(VCL):c.1503G>C (p.Gln501His)

gnomAD frequency: 0.00001  dbSNP: rs1203105475
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001315653 SCV001506237 uncertain significance Dilated cardiomyopathy 1W 2022-07-22 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1016625). This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 501 of the VCL protein (p.Gln501His). This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with VCL-related conditions.
Fulgent Genetics, Fulgent Genetics RCV002493647 SCV002783407 uncertain significance Dilated cardiomyopathy 1W; Hypertrophic cardiomyopathy 15 2022-03-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004034363 SCV005025978 uncertain significance Cardiovascular phenotype 2023-10-27 criteria provided, single submitter clinical testing The p.Q501H variant (also known as c.1503G>C), located in coding exon 11 of the VCL gene, results from a G to C substitution at nucleotide position 1503. The glutamine at codon 501 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. 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 alteration remains unclear.

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