ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.553T>A (p.Tyr185Asn)

gnomAD frequency: 0.00001  dbSNP: rs768390987
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001905552 SCV002155807 uncertain significance Chuvash polycythemia; Von Hippel-Lindau syndrome 2023-09-18 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. 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. ClinVar contains an entry for this variant (Variation ID: 1385557). This variant has not been reported in the literature in individuals affected with VHL-related conditions. This variant is present in population databases (rs768390987, gnomAD 0.01%). This sequence change replaces tyrosine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 185 of the VHL protein (p.Tyr185Asn).
Baylor Genetics RCV003470996 SCV004206474 uncertain significance Chuvash polycythemia 2023-10-06 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004785360 SCV005407482 likely benign Von Hippel-Lindau syndrome 2024-08-26 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.

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