ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.802G>A (p.Val268Ile)

dbSNP: rs62645936
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003591677 SCV004293320 uncertain significance PRPH2-related disorder 2023-01-21 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. Experimental studies have shown that this missense change affects PRPH2 function (PMID: 27033727). 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. ClinVar contains an entry for this variant (Variation ID: 98710). This missense change has been observed in individual(s) with adult vitelliform macular dystrophy (PMID: 9338584). This variant is present in population databases (rs62645936, gnomAD 0.004%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 268 of the PRPH2 protein (p.Val268Ile).
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815037 SCV005068617 likely pathogenic Retinal dystrophy 2021-01-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000085023 SCV005093520 uncertain significance not provided 2024-07-01 criteria provided, single submitter clinical testing PRPH2: PS4:Moderate, PM2:Supporting, PS3:Supporting, BP4
Retina International RCV000085023 SCV000117159 not provided not provided no assertion provided not provided
Leiden Open Variation Database RCV000085023 SCV001745000 pathogenic not provided 2021-04-06 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Manon Peeters.

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