ClinVar Miner

Submissions for variant NM_006734.4(HIVEP2):c.1816G>A (p.Val606Met)

dbSNP: rs1775590631
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001765681 SCV001999278 likely benign not provided 2022-03-03 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001765681 SCV003499893 uncertain significance not provided 2022-07-11 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with HIVEP2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 606 of the HIVEP2 protein (p.Val606Met). ClinVar contains an entry for this variant (Variation ID: 1309512). 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function.

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