ClinVar Miner

Submissions for variant NM_007126.5(VCP):c.426G>A (p.Ala142=)

gnomAD frequency: 0.00001  dbSNP: rs577812326
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000525916 SCV000638347 likely benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 2023-07-25 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000598290 SCV000706385 uncertain significance not provided 2017-02-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002330872 SCV002627809 likely benign Inborn genetic diseases 2019-07-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.

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