ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.52C>T (p.Pro18Ser)

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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 RCV003107174 SCV003782753 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2023-03-13 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 2416425). This variant has not been reported in the literature in individuals affected with DHTKD1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 18 of the DHTKD1 protein (p.Pro18Ser).

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