ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.2658+2del

gnomAD frequency: 0.00002  dbSNP: rs1453191182
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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 RCV001975590 SCV002254036 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2023-05-02 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1471232). This variant has not been reported in the literature in individuals affected with DHTKD1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change affects a splice site in intron 16 of the DHTKD1 gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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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