ClinVar Miner

Submissions for variant NM_007126.5(VCP):c.340A>G (p.Ile114Val)

gnomAD frequency: 0.00009  dbSNP: rs549915384
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733637 SCV000861726 uncertain significance not provided 2018-06-12 criteria provided, single submitter clinical testing
Invitae RCV000801185 SCV000940951 likely benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 2023-10-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002332532 SCV002618519 likely benign Inborn genetic diseases 2021-03-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003420311 SCV004118523 uncertain significance VCP-related condition 2022-12-13 criteria provided, single submitter clinical testing The VCP c.340A>G variant is predicted to result in the amino acid substitution p.Ile114Val. This variant was reported in a few individuals with amyotrophic lateral sclerosis (Koppers et al 2012. PubMed ID: 22078486; Morgan S et al 2017. PubMed ID: 28430856; Mehta PR et al 2018. PubMed ID: 30270202). This variant is reported in 0.015% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-35066777-T-C). This variant has also been reported as uncertain and likely benign by other labs in ClinVar. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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