ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.745G>A (p.Gly249Ser)

dbSNP: rs2152005248
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001810072 SCV002058523 uncertain significance Retinitis pigmentosa 7 2022-01-03 criteria provided, single submitter clinical testing Same nucleotide change resulting in same amino acid change has been previously reported to be associated with PRPH2 related disorder (ClinVar ID: VCV001175273, PMID:19038374, PS1_P). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.871, 3CNET: 0.958, PP3_P). A missense variant is a common mechanism associated with Retinitis pigmentosa 7 and digenic form (PP2_P). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815556 SCV005071931 likely pathogenic Retinal dystrophy 2007-01-01 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001530329 SCV001745113 likely 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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