ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.937C>T (p.Pro313Ser)

gnomAD frequency: 0.00002  dbSNP: rs746742888
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV001250364 SCV001424692 uncertain significance Cone-rod dystrophy 2020-01-07 criteria provided, single submitter clinical testing The variant NM_000322.4:c.937C>T 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 (rs746742888). It is present in gnomAD browser (AF 0.0000203). This variant is not already listed in ClinVar. It is not enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PM2, BP4] and classified NM_000322.4:c.937C>T in the PRPH2 gene as a Variant of Uncertain Significance.
Leiden Open Variation Database RCV001530386 SCV001745195 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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