ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.508G>A (p.Val170Ile) (rs1553620326)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000569840 SCV000675814 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-20 criteria provided, single submitter clinical testing The p.V170I variant (also known as c.508G>A), located in coding exon 3 of the VHL gene, results from a G to A substitution at nucleotide position 508. The valine at codon 170 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001210329 SCV001381812 uncertain significance Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 2020-09-03 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 170 of the VHL protein (p.Val170Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with VHL-related conditions. ClinVar contains an entry for this variant (Variation ID: 486713). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Tolerated; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C0). 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.

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