ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.2402+3A>G

gnomAD frequency: 0.00001  dbSNP: rs754298961
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001934395 SCV002208399 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2023-02-01 criteria provided, single submitter clinical testing 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. 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 is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 1438963). This variant has been observed in individual(s) with clinical features of 2-aminoadipic 2-oxoadipic aciduria (PMID: 28454995). This variant is present in population databases (rs754298961, gnomAD 0.06%). This sequence change falls in intron 14 of the DHTKD1 gene. It does not directly change the encoded amino acid sequence of the DHTKD1 protein. It affects a nucleotide within the consensus splice site.
Ambry Genetics RCV002562177 SCV003620398 uncertain significance Inborn genetic diseases 2022-06-10 criteria provided, single submitter clinical testing The c.2402+3A>G intronic alteration consists of a A to G substitution 3 nucleotides after exon 14 of the DHTKD1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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