ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.100C>A (p.Arg34=)

dbSNP: rs1195184698
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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 RCV002038850 SCV002313652 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2021-10-16 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with DHTKD1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 34 of the DHTKD1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the DHTKD1 protein. 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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