ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.2284A>G (p.Ile762Val)

dbSNP: rs2131624242
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001885609 SCV002142252 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2021-08-18 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 762 of the DHTKD1 protein (p.Ile762Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with DHTKD1-related conditions. 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. 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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