ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.761T>A (p.Leu254Gln)

dbSNP: rs1800110989
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV001250340 SCV001424660 likely pathogenic Patterned dystrophy of the retinal pigment epithelium 2020-01-07 criteria provided, single submitter clinical testing The variant NM_000322.4:c.761T>A in the PRPH2 gene has been previously studied(PMID 25447119). We found this variant in 2 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 [PS3-down-PP, PM2, PP3, PP1-M] and classified NM_000322.4:c.761T>A in the PRPH2 gene as a Likely Pathogenic mutation.
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV001250341 SCV001424661 likely pathogenic Retinitis pigmentosa 2020-01-07 criteria provided, single submitter clinical testing The variant NM_000322.4:c.761T>A in the PRPH2 gene has been previously studied(PMID 25447119). We found this variant in 2 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 [PS3-down-PP, PM2, PP3, PP1-M] and classified NM_000322.4:c.761T>A in the PRPH2 gene as a Likely Pathogenic mutation.
Labcorp Genetics (formerly Invitae), Labcorp RCV001386135 SCV001586264 pathogenic PRPH2-related disorder 2020-02-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been reported to affect PRPH2 protein function (PMID:25447119). This variant has been observed in individual(s) with autosomal dominant retinitis pigmentosa (PMID:25447119). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with glutamine at codon 254 of the PRPH2 protein (p.Leu254Gln). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and glutamine.
Leiden Open Variation Database RCV001530379 SCV001745188 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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