ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.1594C>T (p.Arg532Trp)

gnomAD frequency: 0.00006  dbSNP: rs781243504
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331066 SCV001522986 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2020-10-09 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001331066 SCV003522940 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 532 of the DHTKD1 protein (p.Arg532Trp). This variant is present in population databases (rs781243504, gnomAD 0.02%). 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: 1029714). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on DHTKD1 protein function. 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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