ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.71A>G (p.Tyr24Cys)

gnomAD frequency: 0.00006  dbSNP: rs895237537
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331065 SCV001522985 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2020-04-08 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 RCV001331065 SCV002134888 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2021-10-10 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. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 1029713). This variant has not been reported in the literature in individuals affected with DHTKD1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with cysteine at codon 24 of the DHTKD1 protein (p.Tyr24Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV002291298 SCV002583680 uncertain significance not provided 2022-07-12 criteria provided, single submitter clinical testing PM2, PP3

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