ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.2096A>G (p.His699Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003115596 SCV003788181 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2022-04-20 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 699 of the DHTKD1 protein (p.His699Arg). This variant is present in population databases (rs773572824, gnomAD 0.004%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Mayo Clinic Laboratories, Mayo Clinic RCV003481447 SCV004225203 uncertain significance not provided 2022-02-25 criteria provided, single submitter clinical testing PP3

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