ClinVar Miner

Submissions for variant NM_000539.3(RHO):c.532T>C (p.Tyr178His)

dbSNP: rs2084785435
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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 RCV001075883 SCV001241524 likely pathogenic Retinal dystrophy 2019-08-15 criteria provided, single submitter clinical testing
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV001265191 SCV001443224 likely pathogenic Retinitis pigmentosa 4 2020-09-01 criteria provided, single submitter clinical testing
Invitae RCV001321723 SCV001512567 likely pathogenic not provided 2023-01-01 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 178 of the RHO protein (p.Tyr178His). This variant is not present in population databases (gnomAD no frequency). 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.Tyr178 amino acid residue in RHO. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 1862076, 25221422, 29847639, 30240733, 30718709). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 867225). This missense change has been observed in individuals with clinical features of autosomal dominant retinitis pigmentosa (PMID: 32037395; Invitae).

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