ClinVar Miner

Submissions for variant NM_007126.5(VCP):c.1242G>A (p.Leu414=)

gnomAD frequency: 0.00004  dbSNP: rs375262833
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729642 SCV000857318 uncertain significance not provided 2017-10-04 criteria provided, single submitter clinical testing
Invitae RCV001221457 SCV001393504 uncertain significance 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 This sequence change affects codon 414 of the VCP mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the VCP protein. This variant is present in population databases (rs375262833, gnomAD 0.008%). This variant has been observed in individual(s) with amyotrophic lateral sclerosis and progressive muscular atrophy (PMID: 22078486). ClinVar contains an entry for this variant (Variation ID: 594371). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
CeGaT Center for Human Genetics Tuebingen RCV000729642 SCV002063234 likely benign not provided 2021-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002386295 SCV002673932 likely benign Inborn genetic diseases 2019-07-11 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.

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