ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.2571A>G (p.Lys857=)

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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 RCV003643268 SCV004387938 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2023-03-27 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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. 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 0.001%). This sequence change affects codon 857 of the DHTKD1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the DHTKD1 protein. It affects a nucleotide within the consensus splice site.

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