ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.831T>G (p.His277Gln)

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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 RCV002633633 SCV003515350 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2022-03-02 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 glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with DHTKD1-related conditions. This variant is present in population databases (rs779049645, gnomAD 0.004%). This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 277 of the DHTKD1 protein (p.His277Gln).
Ambry Genetics RCV002633634 SCV003648697 uncertain significance Inborn genetic diseases 2022-09-22 criteria provided, single submitter clinical testing The c.831T>G (p.H277Q) alteration is located in exon 5 (coding exon 5) of the DHTKD1 gene. This alteration results from a T to G substitution at nucleotide position 831, causing the histidine (H) at amino acid position 277 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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