ClinVar Miner

Submissions for variant NM_014000.3(VCL):c.2241G>C (p.Gln747His)

gnomAD frequency: 0.00001  dbSNP: rs770019329
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001773839 SCV001992042 uncertain significance not provided 2019-04-15 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Labcorp Genetics (formerly Invitae), Labcorp RCV003512128 SCV004279103 uncertain significance Dilated cardiomyopathy 1W 2023-09-19 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. 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. ClinVar contains an entry for this variant (Variation ID: 1305129). This variant has not been reported in the literature in individuals affected with VCL-related conditions. This variant is present in population databases (rs770019329, gnomAD 0.002%). This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 747 of the VCL protein (p.Gln747His).

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