ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.1477A>G (p.Asn493Asp)

gnomAD frequency: 0.00001  dbSNP: rs761255122
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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 RCV002012194 SCV002237473 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2021-12-15 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with DHTKD1-related conditions. This variant is present in population databases (rs761255122, gnomAD 0.0009%). This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 493 of the DHTKD1 protein (p.Asn493Asp).

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