ClinVar Miner

Submissions for variant NC_000010.11:g.(?_12118729)_(12120287_?)del

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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 RCV001032895 SCV001196202 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2023-10-13 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 15-16 of the DHTKD1 gene. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to disrupt the C-terminus of the protein. 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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