ClinVar Miner

Submissions for variant NM_007126.5(VCP):c.2345G>T (p.Gly782Val)

dbSNP: rs1828626335
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001367667 SCV001564024 uncertain significance Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 2020-10-01 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with VCP-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt VCP protein function. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with valine at codon 782 of the VCP protein (p.Gly782Val). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and valine. 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.
GeneDx RCV003318686 SCV004022522 uncertain significance not provided 2023-01-31 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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