ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.40G>C (p.Gly14Arg)

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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 RCV002895901 SCV003250234 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2023-09-01 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 14 of the DHTKD1 protein (p.Gly14Arg). 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: "Not Available"; PolyPhen-2: "Not Available"; Align-GVGD: "Not Available". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 2043746). This variant has not been reported in the literature in individuals affected with DHTKD1-related conditions. This variant is present in population databases (rs146881212, gnomAD 0.09%).
Ambry Genetics RCV004066114 SCV004857005 uncertain significance Inborn genetic diseases 2024-05-10 criteria provided, single submitter clinical testing The c.40G>C (p.G14R) alteration is located in exon 1 (coding exon 1) of the DHTKD1 gene. This alteration results from a G to C substitution at nucleotide position 40, causing the glycine (G) at amino acid position 14 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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