ClinVar Miner

Submissions for variant NM_000539.3(RHO):c.1040C>G (p.Pro347Arg)

dbSNP: rs29001566
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001382064 SCV001580672 pathogenic not provided 2023-11-15 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 347 of the RHO protein (p.Pro347Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with autosomal dominant retinitis pigmentosa (PMID: 1840561, 26962691). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 13032). 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 with a positive predictive value of 95%. This variant disrupts the p.Pro347 amino acid residue in RHO. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 2215617, 25221422). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000013907 SCV000034154 pathogenic Retinitis pigmentosa 4 1991-10-01 no assertion criteria provided literature only
Sharon lab, Hadassah-Hebrew University Medical Center RCV001003173 SCV001161249 likely pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research

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