ClinVar Miner

Submissions for variant NM_007126.5(VCP):c.1202A>G (p.Asn401Ser)

gnomAD frequency: 0.00009  dbSNP: rs148329626
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000534353 SCV000638339 likely benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 2025-01-06 criteria provided, single submitter clinical testing
GeneDx RCV001579523 SCV001874337 benign not provided 2021-02-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27990419, 32403337, 27439681)
Ambry Genetics RCV002350262 SCV002654346 likely benign Inborn genetic diseases 2019-12-30 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.
Revvity Omics, Revvity RCV001579523 SCV003820378 uncertain significance not provided 2023-07-18 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579523 SCV001807558 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001579523 SCV001924518 uncertain significance not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004537963 SCV004735511 likely benign VCP-related disorder 2023-05-24 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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