ClinVar Miner

Submissions for variant NM_000539.3(RHO):c.560G>T (p.Cys187Phe)

dbSNP: rs1578280588
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074608 SCV001240199 likely pathogenic Retinal dystrophy 2019-01-17 criteria provided, single submitter clinical testing
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV001265197 SCV001443233 likely pathogenic Retinitis pigmentosa 4 2020-09-01 criteria provided, single submitter clinical testing
Invitae RCV001862569 SCV002315278 likely pathogenic not provided 2022-08-25 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 866537). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Cys187 amino acid residue in RHO. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 7724183, 26962691). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt RHO protein function. This missense change has been observed in individual(s) with autosomal dominant retinitis pigmentosa (PMID: 31877679). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces cysteine, which is neutral and slightly polar, with phenylalanine, which is neutral and non-polar, at codon 187 of the RHO protein (p.Cys187Phe).

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