ClinVar Miner

Submissions for variant NM_007126.5(VCP):c.445+8C>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003053751 SCV003335477 uncertain significance Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 2022-03-28 criteria provided, single submitter clinical testing This sequence change falls in intron 4 of the VCP gene. It does not directly change the encoded amino acid sequence of the VCP protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with VCP-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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