ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.240A>C (p.Gln80His)

gnomAD frequency: 0.00001  dbSNP: rs1407480386
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001768359 SCV002008943 uncertain significance not provided 2021-05-13 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV003772096 SCV004675355 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2023-06-27 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 80 of the DHTKD1 protein (p.Gln80His). This variant is not present in population databases (gnomAD no frequency). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DHTKD1 protein function. ClinVar contains an entry for this variant (Variation ID: 1318735). This variant has not been reported in the literature in individuals affected with DHTKD1-related conditions.

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