ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.608A>G (p.His203Arg)

dbSNP: rs2131357346
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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 RCV001968381 SCV002239397 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2021-07-12 criteria provided, single submitter clinical testing 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with DHTKD1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with arginine at codon 203 of the DHTKD1 protein (p.His203Arg). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and arginine.

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