ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.521G>C (p.Trp174Ser)

dbSNP: rs1761906296
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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 RCV001250368 SCV001424701 uncertain significance Cone-rod dystrophy 2020-01-07 criteria provided, single submitter clinical testing The variant NM_000322.4:c.521G>C 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 not listed in dbSNP and/or HGMD. It is absent in gnomAD browser. It is not enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PM1, PM2, PP3] and classified NM_000322.4:c.521G>C in the PRPH2 gene as a Variant of Uncertain Significance.
Leiden Open Variation Database RCV001530229 SCV001744966 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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