ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.903_906del (p.Ser301fs)

dbSNP: rs1799988458
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074073 SCV001239642 likely pathogenic Retinal dystrophy 2018-12-13 criteria provided, single submitter clinical testing
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV001250361 SCV001424689 likely pathogenic Patterned dystrophy of the retinal pigment epithelium 2020-01-07 criteria provided, single submitter clinical testing The variant NM_000322.4:c.903_906del in the PRPH2 gene has not been reported to our knowledge . We found this variant in 3 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 enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PS4, PM2] and classified NM_000322.4:c.903_906del in the PRPH2 gene as a Likely Pathogenic mutation.
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV001250362 SCV001424690 likely pathogenic Vitelliform macular dystrophy 2 2020-01-07 criteria provided, single submitter clinical testing The variant NM_000322.4:c.903_906del in the PRPH2 gene has not been reported to our knowledge . We found this variant in 3 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 enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PS4, PM2] and classified NM_000322.4:c.903_906del in the PRPH2 gene as a Likely Pathogenic mutation.
Labcorp Genetics (formerly Invitae), Labcorp RCV001862534 SCV002243268 pathogenic PRPH2-related disorder 2022-03-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the PRPH2 protein in which other variant(s) (p.Trp304*) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 866239). This premature translational stop signal has been observed in individual(s) with PRPH2-related conditions (PMID: 32531846). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser301Argfs*22) in the PRPH2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 46 amino acid(s) of the PRPH2 protein.
Leiden Open Variation Database RCV001530334 SCV001745121 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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