ClinVar Miner

Submissions for variant NM_017831.4(RNF125):c.47C>G (p.Ser16Cys)

gnomAD frequency: 0.00001  dbSNP: rs766520562
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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 RCV000652521 SCV000774391 uncertain significance Tenorio syndrome 2019-04-25 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 missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with RNF125-related disease. This variant is present in population databases (rs766520562, ExAC 0.02%). This sequence change replaces serine with cysteine at codon 16 of the RNF125 protein (p.Ser16Cys). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and cysteine.

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