ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.589A>G (p.Lys197Glu)

dbSNP: rs62645931
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000084991 SCV001446676 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002514516 SCV003439412 pathogenic PRPH2-related disorder 2023-09-23 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 197 of the PRPH2 protein (p.Lys197Glu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with clinical features of autosomal dominant retinitis pigmentosa (PMID: 9279751, 18310263, 26496393). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 98681). 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. For these reasons, this variant has been classified as Pathogenic.
Dept Of Ophthalmology, Nagoya University RCV003888457 SCV004707347 likely pathogenic Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV003888457 SCV005070735 pathogenic Retinal dystrophy 2006-01-01 criteria provided, single submitter clinical testing
Retina International RCV000084991 SCV000117127 not provided not provided no assertion provided not provided
Leiden Open Variation Database RCV000084991 SCV001745160 likely pathogenic not provided 2021-06-19 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitters to LOVD: LOVD, Manon Peeters, Yoshito Koyanagi.

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