ClinVar Miner

Submissions for variant NM_007126.5(VCP):c.446-5C>T

gnomAD frequency: 0.00002  dbSNP: rs541980846
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001394423 SCV001596107 likely benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 2023-11-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002329415 SCV002636009 uncertain significance Inborn genetic diseases 2021-08-02 criteria provided, single submitter clinical testing The c.446-5C>T intronic variant results from a C to T substitution 5 nucleotides upstream from coding exon 5 in the VCP gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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