ClinVar Miner

Submissions for variant NM_007126.5(VCP):c.2014T>G (p.Leu672Val)

dbSNP: rs757829124
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000801506 SCV000941283 uncertain significance Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1; Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 2018-08-09 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 672 of the VCP protein (p.Leu672Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. This variant is present in population databases (rs757829124, ExAC 0.001%). This variant has not been reported in the literature in individuals with VCP-related disease. 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). 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.

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