ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.167C>G (p.Ala56Gly) (rs752980085)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409162 SCV000487943 uncertain significance Von Hippel-Lindau syndrome 2015-12-04 criteria provided, single submitter clinical testing
Invitae RCV000530730 SCV000626882 uncertain significance Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 2018-12-05 criteria provided, single submitter clinical testing This sequence change replaces alanine with glycine at codon 56 of the VHL protein (p.Ala56Gly). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and glycine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with VHL-related disease. ClinVar contains an entry for this variant (Variation ID: 371800). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Ambry Genetics RCV001012691 SCV001173176 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-04 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Gharavi Laboratory,Columbia University RCV000782251 SCV000920741 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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