ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.1685A>G (p.Lys562Arg)

dbSNP: rs2131367049
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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 RCV002001571 SCV002271558 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2021-03-23 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with DHTKD1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with arginine at codon 562 of the DHTKD1 protein (p.Lys562Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine.

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