ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.2266A>T (p.Asn756Tyr)

gnomAD frequency: 0.00011  dbSNP: rs199643928
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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 RCV001335924 SCV001529184 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2018-05-04 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 RCV001335924 SCV002118271 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2022-10-07 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 756 of the DHTKD1 protein (p.Asn756Tyr). This variant is present in population databases (rs199643928, gnomAD 0.2%). 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: 1033497). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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