ClinVar Miner

Submissions for variant NM_007126.5(VCP):c.397G>T (p.Val133Leu)

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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 RCV003089263 SCV003466223 uncertain significance Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 133 of the VCP protein (p.Val133Leu). This variant is present in population databases (rs775567003, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with VCP-related conditions. ClinVar contains an entry for this variant (Variation ID: 2154906). 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. 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.
Undiagnosed Diseases Network, NIH RCV004763532 SCV005368719 uncertain significance Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 2024-04-03 no assertion criteria provided clinical testing

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