ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.2465C>T (p.Ser822Phe)

gnomAD frequency: 0.00001  dbSNP: rs768650459
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001994249 SCV002272580 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2021-08-17 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. This sequence change replaces serine with phenylalanine at codon 822 of the DHTKD1 protein (p.Ser822Phe). The serine residue is moderately conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is present in population databases (rs768650459, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with DHTKD1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0").

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