ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.508G>A (p.Gly170Ser)

gnomAD frequency: 0.00001  dbSNP: rs61755791
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002513912 SCV003244733 uncertain significance PRPH2-related disorder 2022-11-08 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PRPH2 protein function. ClinVar contains an entry for this variant (Variation ID: 98674). This missense change has been observed in individual(s) with PRPH2-related conditions (PMID: 9831753). This variant is present in population databases (rs61755791, gnomAD 0.02%). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 170 of the PRPH2 protein (p.Gly170Ser).
Dept Of Ophthalmology, Nagoya University RCV003888455 SCV004707351 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Retina International RCV000084979 SCV000117115 not provided not provided no assertion provided not provided

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