ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.2135G>A (p.Arg712Gln)

gnomAD frequency: 0.00001  dbSNP: rs755668251
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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 RCV001928826 SCV002204231 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2021-10-04 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with DHTKD1-related conditions. This variant is present in population databases (rs755668251, ExAC 0.001%). This sequence change replaces arginine with glutamine at codon 712 of the DHTKD1 protein (p.Arg712Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. 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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