ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.34_35delinsTT (p.Glu12Leu)

dbSNP: rs1696115662
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001206074 SCV001377362 uncertain significance Chuvash polycythemia; Von Hippel-Lindau syndrome 2023-10-28 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with leucine, which is neutral and non-polar, at codon 12 of the VHL protein (p.Glu12Leu). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with VHL-related conditions. ClinVar contains an entry for this variant (Variation ID: 937122). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
GeneDx RCV001586049 SCV001813102 uncertain significance not provided 2020-02-26 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Also known as c.247_248delGAinsTT (p.Glu53Leu)
Baylor Genetics RCV003469335 SCV004208753 uncertain significance Chuvash polycythemia 2023-08-23 criteria provided, single submitter clinical testing

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