ClinVar Miner

Submissions for variant NM_007126.5(VCP):c.84T>A (p.Val28=)

dbSNP: rs1587130660
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002233819 SCV000930902 uncertain significance Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 2022-02-09 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 638960). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with VCP-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 28 of the VCP mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the VCP protein.

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