ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.806C>G (p.Thr269Arg)

dbSNP: rs781212034
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001212593 SCV001384181 uncertain significance PRPH2-related disorder 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with arginine, which is basic and polar, at codon 269 of the PRPH2 protein (p.Thr269Arg). This variant is present in population databases (rs781212034, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of retinal dystrophy and/or PRPH2-related conditions (PMID: 31213501; Invitae). ClinVar contains an entry for this variant (Variation ID: 942581). 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 not expected to disrupt PRPH2 protein function. 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.
GeneDx RCV001530253 SCV002007245 uncertain significance not provided 2020-02-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Dept Of Ophthalmology, Nagoya University RCV003890361 SCV004707327 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Leiden Open Variation Database RCV001530253 SCV001745001 uncertain significance not provided 2019-07-24 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Yoshito Koyanagi.

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