ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.725A>G (p.Glu242Gly)

dbSNP: rs542296728
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175581 SCV000227093 uncertain significance not provided 2014-08-11 criteria provided, single submitter clinical testing
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV001250337 SCV001424657 uncertain significance Stargardt disease 2020-01-07 criteria provided, single submitter clinical testing The variant NM_000322.4:c.725A>G in the PRPH2 gene has not been reported to our knowledge . We found this variant in 1 patient(s) in a PRPH2 cohort study (Reeves et al. 2020). This variant is listed in dbSNP and/or HGMD (rs542296728). It is present in gnomAD browser (AF 0.0004768). It is not enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PM2, PP3] and classified NM_000322.4:c.725A>G in the PRPH2 gene as a Variant of Uncertain Significance.
Invitae RCV001463523 SCV001667469 likely benign PRPH2-Related Disorders 2023-11-24 criteria provided, single submitter clinical testing
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation RCV003389460 SCV003927082 likely pathogenic Usher syndrome 2022-12-31 criteria provided, single submitter research
Leiden Open Variation Database RCV000175581 SCV001745105 uncertain significance 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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