Submissions for variant NM_007126.5(VCP):c.*4G>T

gnomAD frequency: 0.00052  dbSNP: rs201091341

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000301970	SCV000336879	likely benign	not specified	2016-11-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000376145	SCV000479799	benign	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000291446	SCV000479800	likely benign	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Baylor Genetics	RCV000291446	SCV001527548	uncertain significance	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	2018-04-05	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx	RCV001559813	SCV001782113	likely benign	not provided	2021-04-13	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000301970	SCV001880372	benign	not specified	2020-10-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001559813	SCV004042359	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	VCP: BS1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	RCV001252622	SCV001428383	uncertain significance	Intellectual disability	2019-01-01	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001559813	SCV001918980	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001559813	SCV001927107	likely benign	not provided		no assertion criteria provided	clinical testing