ClinVar Miner

Submissions for variant NM_007126.5(VCP):c.572G>A (p.Arg191Gln) (rs121909334)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516636 SCV000616238 likely pathogenic not provided 2017-04-12 criteria provided, single submitter clinical testing
Invitae RCV000555373 SCV000638349 pathogenic Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1; Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia 2018-08-07 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 191 of the VCP protein (p.Arg191Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in families and individuals affected with inclusion body myopathy with Paget’s disease of the bone and frontotemporal dementia (IBMPFD), facioscapulohumeral muscular dystrophy-like phenotype and amyotrophic lateral sclerosis (PMID: 21145000, 15034582, 22900631, 21984748). ClinVar contains an entry for this variant (Variation ID: 8473). Experimental studies have shown that this missense change alters many aspects of VCP function, including increasing mitochondrial respiration and uncoupling and increasing ATPase activity (PMID: 23333620, 27226613, 23498975, 22270372, 19237541, 24196964). For these reasons, this variant has been classified as Pathogenic.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000516636 SCV000708696 pathogenic not provided 2018-07-05 criteria provided, single submitter clinical testing
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000008994 SCV000840429 pathogenic Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 2018-04-30 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000516636 SCV001248045 pathogenic not provided 2017-04-01 criteria provided, single submitter clinical testing
OMIM RCV000008994 SCV000029208 pathogenic Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 2012-01-01 no assertion criteria provided literature only
OMIM RCV000023064 SCV000044355 pathogenic Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia 2012-01-01 no assertion criteria provided literature only
Institute of Human Genetics,Cologne University RCV000023064 SCV000787766 pathogenic Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia 2018-04-25 no assertion criteria provided clinical testing

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