ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.592_594del (p.Leu198del)

dbSNP: rs2125130773
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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 RCV001878691 SCV002130107 uncertain significance Chuvash polycythemia; Von Hippel-Lindau syndrome 2021-07-30 criteria provided, single submitter clinical testing 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. This variant disrupts a region of the VHL protein in which other variant(s) (p.Leu198Gln) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with VHL-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.592_594del, results in the deletion of 1 amino acid(s) of the VHL protein (p.Leu198del), but otherwise preserves the integrity of the reading frame.

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