ClinVar Miner

Submissions for variant NM_007126.5(VCP):c.79A>G (p.Ile27Val)

gnomAD frequency: 0.00151  dbSNP: rs140913250
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000390549 SCV000336872 benign not specified 2017-04-19 criteria provided, single submitter clinical testing
Invitae RCV000639655 SCV000761235 benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 2024-01-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001168490 SCV001331084 benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV001168987 SCV001331632 benign Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
GeneDx RCV001642885 SCV001860065 benign not provided 2021-01-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30279455, 28430856, 21387114, 21920633, 25617006, 28542158, 31996268)
Ambry Genetics RCV002418113 SCV002678644 likely benign Inborn genetic diseases 2020-05-20 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 RCV003967735 SCV004777136 likely benign VCP-related condition 2021-11-12 criteria provided, single submitter 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).
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252623 SCV001428384 uncertain significance Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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