ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.653C>T (p.Ser218Leu)

dbSNP: rs986748364
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000487688 SCV000575469 uncertain significance not provided 2018-04-01 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199524 SCV001162620 pathogenic Stargardt disease 2020-01-09 criteria provided, single submitter research
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199528 SCV001162624 pathogenic Isolated macular dystrophy 2020-01-09 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV002526003 SCV003330159 likely pathogenic PRPH2-related disorder 2022-03-14 criteria provided, single submitter clinical testing 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.Ser218 amino acid residue in PRPH2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 30718709; Invitae). 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 PRPH2 protein function. ClinVar contains an entry for this variant (Variation ID: 425378). This variant has not been reported in the literature in individuals affected with PRPH2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 218 of the PRPH2 protein (p.Ser218Leu).

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