ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.478C>T (p.Gln160Ter)

dbSNP: rs1582780550
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV001250328 SCV001424648 likely pathogenic Stargardt disease 2020-01-07 criteria provided, single submitter clinical testing The variant NM_000322.4:c.478C>T in the PRPH2 gene has been previously studied(PMID 30718709). 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 (CM192562). It is absent in gnomAD browser. It is not enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PVS1, PM2] and classified NM_000322.4:c.478C>T in the PRPH2 gene as a Likely Pathogenic mutation.
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787662 SCV000926651 likely pathogenic Retinal dystrophy 2018-04-01 no assertion criteria provided research
Leiden Open Variation Database RCV001530345 SCV001745143 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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