ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.2284_2286del (p.Ile762del)

gnomAD frequency: 0.00001  dbSNP: rs765370424
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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 RCV001893994 SCV002118518 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2023-01-18 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1357475). This variant has not been reported in the literature in individuals affected with DHTKD1-related conditions. This variant is present in population databases (rs765370424, gnomAD 0.0009%). This variant, c.2284_2286del, results in the deletion of 1 amino acid(s) of the DHTKD1 protein (p.Ile762del), but otherwise preserves the integrity of the reading frame.

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