ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.353T>C (p.Leu118Pro) (rs5030830)

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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 RCV000492175 SCV000580985 pathogenic Hereditary cancer-predisposing syndrome 2018-10-02 criteria provided, single submitter clinical testing In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;Well-characterized mutation at same position;Rarity in general population databases (dbsnp, esp, 1000 genomes);Other strong data supporting pathogenic classification
Invitae RCV000801496 SCV000941273 pathogenic Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 2018-11-30 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 118 of the VHL protein (p.Leu118Pro). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with von Hippel-Lindau (VHL) syndrome in families (PMID: 9829912, 25952756) and has been observed in several individuals affected with clinical features of VHL (PMID: 7987306, 8956040, 12202531, 17024664, 22799452, 27527340). This variant is also known as c.566T>C (p.Leu189Pro) in the literature. ClinVar contains an entry for this variant (Variation ID: 428807). This variant has been reported to affect VHL protein function (PMID: 14973063). For these reasons, this variant has been classified as Pathogenic.

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