ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.41G>C (p.Gly14Ala)

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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 RCV002659580 SCV002985794 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2023-07-21 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1949907). This variant has not been reported in the literature in individuals affected with DHTKD1-related conditions. This variant is present in population databases (rs747408194, gnomAD 0.01%). This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 14 of the DHTKD1 protein (p.Gly14Ala). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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