ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.372_375del (p.His125fs)

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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 RCV003782866 SCV004604655 pathogenic Chuvash polycythemia; Von Hippel-Lindau syndrome 2023-12-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His125Metfs*33) in the VHL gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 89 amino acid(s) of the VHL 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 VHL-related conditions. This variant disrupts a region of the VHL protein in which other variant(s) (p.Ser183*) have been determined to be pathogenic (PMID: 8707293, 10567493, 11309459). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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