ClinVar Miner

Submissions for variant NC_000010.10:g.(?_12158694)_(12162192_?)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 RCV002046523 SCV002308147 likely pathogenic 2-aminoadipic 2-oxoadipic aciduria 2023-11-24 criteria provided, single submitter clinical testing This variant results in the deletion of exons 14-15 and part of exon 16 (c.2320-978_2584del) of the DHTKD1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DHTKD1 are known to be pathogenic (PMID: 23141293, 25860818). This variant has not been reported in the literature in individuals affected with DHTKD1-related conditions. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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