ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.1910_1911delinsGC (p.Pro637Arg)

dbSNP: rs2131619564
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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 RCV001978679 SCV002212956 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2024-01-29 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 637 of the DHTKD1 protein (p.Pro637Arg). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with DHTKD1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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