ClinVar Miner

Submissions for variant NM_007126.5(VCP):c.766C>G (p.Arg256Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
The Division of Genetics and Genomic Medicine, Washington University School of Medicine RCV003333707 SCV004041577 likely pathogenic Childhood Onset VCP-related Neurodevelopmental Disorder 2023-09-01 criteria provided, single submitter clinical testing This variant was detected using a 500-gene panel from the Molecular Genetics Laboratory at Brest University Hospital in a male child with developmental delay, epilepsy and macrocephaly. It is not present in gnomAD and is predicted to be deleterious by multiple algorithms (REVEL score 0.89). De novo inheritance was confirmed by Sanger sequencing of his parents. In vitro ATPase assays show this variant has increased ATPase activity compared to wildtype (Mah-Som et al, 2023).
Molecular Genetics Lab, CHRU Brest RCV003883215 SCV004697744 likely pathogenic Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1; Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Charcot-Marie-Tooth disease type 2Y criteria provided, single submitter clinical testing

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