ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.219G>C (p.Gln73His)

dbSNP: rs1575921862
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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 RCV000806476 SCV000946479 uncertain significance Chuvash polycythemia; Von Hippel-Lindau syndrome 2022-09-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with VHL-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 73 of the VHL protein (p.Gln73His). ClinVar contains an entry for this variant (Variation ID: 651175). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt VHL protein function.
Baylor Genetics RCV003461160 SCV004208761 uncertain significance Chuvash polycythemia 2023-07-31 criteria provided, single submitter clinical testing

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