ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.230G>T (p.Cys77Phe)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003187666 SCV003858776 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-22 criteria provided, single submitter clinical testing The p.C77F variant (also known as c.230G>T), located in coding exon 1 of the VHL gene, results from a G to T substitution at nucleotide position 230. The cysteine at codon 77 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003779543 SCV004577826 uncertain significance Chuvash polycythemia; Von Hippel-Lindau syndrome 2023-08-23 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: 2451970). 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 cysteine, which is neutral and slightly polar, with phenylalanine, which is neutral and non-polar, at codon 77 of the VHL protein (p.Cys77Phe).
Baylor Genetics RCV004572871 SCV005055815 uncertain significance Chuvash polycythemia 2023-11-18 criteria provided, single submitter clinical testing

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