ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.505dup (p.Leu169fs)

dbSNP: rs1696357569
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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 RCV001224455 SCV001396649 pathogenic Chuvash polycythemia; Von Hippel-Lindau syndrome 2020-11-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the VHL protein. Other variant(s) that disrupt this region (p.Ser183*) have been determined to be pathogenic (PMID: 8707293, 10567493, 11309459). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has not been reported in the literature in individuals with VHL-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the VHL gene (p.Leu169Profs*5). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 45 amino acids of the VHL protein.

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