ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.1939G>A (p.Glu647Lys)

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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 RCV003644498 SCV004476686 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2022-06-27 criteria provided, single submitter clinical testing Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 647 of the DHTKD1 protein (p.Glu647Lys). This variant has not been reported in the literature in individuals affected with DHTKD1-related conditions. 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.

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