ClinVar Miner

Submissions for variant NM_007126.5(VCP):c.2166A>G (p.Val722=)

gnomAD frequency: 0.00003  dbSNP: rs781606619
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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 RCV001422418 SCV001624965 likely benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 2021-08-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004782590 SCV005394702 likely benign not specified 2024-09-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004735854 SCV005349029 likely benign VCP-related disorder 2024-09-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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