ClinVar Miner

Submissions for variant NM_025000.4(DCAF17):c.1519T>C (p.Cys507Arg)

gnomAD frequency: 0.00010  dbSNP: rs147685213
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000808570 SCV000948682 uncertain significance Woodhouse-Sakati syndrome 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 507 of the DCAF17 protein (p.Cys507Arg). This variant is present in population databases (rs147685213, gnomAD 0.08%). This missense change has been observed in individual(s) with congenital hypothyroidism (PMID: 29546359). ClinVar contains an entry for this variant (Variation ID: 652906). 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"). 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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