ClinVar Miner

Submissions for variant NM_017831.4(RNF125):c.520C>T (p.Arg174Cys)

gnomAD frequency: 0.00001  dbSNP: rs370242930
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000162243 SCV000212234 pathogenic Tenorio syndrome 2014-12-01 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV004755783 SCV005362997 uncertain significance RNF125-related disorder 2024-04-15 no assertion criteria provided clinical testing The RNF125 c.520C>T variant is predicted to result in the amino acid substitution p.Arg174Cys. This variant was reported in multiple individuals with Tenorio syndrome (OMIM #616260; Tenorio et al. 2014. PubMed ID: 25196541; Tenorio-Castaño et al. 2021. PubMed ID: 34196401). This variant is reported in 0.0098% of alleles in individuals of South Asian descent in gnomAD. Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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