ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.2008A>G (p.Asn670Asp)

gnomAD frequency: 0.00003  dbSNP: rs149034097
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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 RCV001071796 SCV001237117 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2023-11-03 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 670 of the DHTKD1 protein (p.Asn670Asp). This variant is present in population databases (rs149034097, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with DHTKD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 864576). 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 with a negative predictive value of 80%. 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.
GeneDx RCV002274135 SCV002559337 uncertain significance not provided 2022-02-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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