ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.420G>C (p.Gln140His)

gnomAD frequency: 0.00003  dbSNP: rs953186201
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001508293 SCV001714347 uncertain significance not provided 2019-10-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001882555 SCV002151868 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2022-07-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with DHTKD1-related conditions. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1163327). This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 140 of the DHTKD1 protein (p.Gln140His).

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