ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.202G>A (p.Gly68Arg)

dbSNP: rs61755774
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001857415 SCV002192444 pathogenic PRPH2-related disorder 2022-07-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 68 of the PRPH2 protein (p.Gly68Arg). This variant is present in population databases (rs61755774, gnomAD 0.0009%). This missense change has been observed in individuals with macular dystrophy and retinitis pigmentosa (PMID: 8994365, 9331261). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 98657).
Retina International RCV000084959 SCV000117095 not provided not provided no assertion provided not provided

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