ClinVar Miner

Submissions for variant NM_017831.4(RNF125):c.92C>T (p.Pro31Leu)

gnomAD frequency: 0.00007  dbSNP: rs751589349
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000438755 SCV000511307 uncertain significance not provided 2016-09-15 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV000764157 SCV000895154 uncertain significance Tenorio syndrome 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000764157 SCV000953315 uncertain significance Tenorio syndrome 2018-08-20 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 are either unavailable or 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. ClinVar contains an entry for this variant (Variation ID: 377122). This variant is present in population databases (rs751589349, ExAC 0.003%). This sequence change replaces proline with leucine at codon 31 of the RNF125 protein (p.Pro31Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine.
CeGaT Center for Human Genetics Tuebingen RCV000438755 SCV005051390 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing RNF125: BS1

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