ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.22G>A (p.Ala8Thr)

gnomAD frequency: 0.00002  dbSNP: rs371803487
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001949854 SCV002202230 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2022-09-07 criteria provided, single submitter clinical testing This variant is present in population databases (rs371803487, gnomAD 0.02%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 8 of the DHTKD1 protein (p.Ala8Thr). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1426935). This variant has not been reported in the literature in individuals affected with DHTKD1-related conditions.

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