ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.2113G>A (p.Gly705Arg)

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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 RCV003074259 SCV003454074 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2022-05-14 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 705 of the DHTKD1 protein (p.Gly705Arg). This variant is present in population databases (rs549128233, gnomAD 0.02%). 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.
Ambry Genetics RCV004614329 SCV005104463 uncertain significance Inborn genetic diseases 2024-03-25 criteria provided, single submitter clinical testing The c.2113G>A (p.G705R) alteration is located in exon 12 (coding exon 12) of the DHTKD1 gene. This alteration results from a G to A substitution at nucleotide position 2113, causing the glycine (G) at amino acid position 705 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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