ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.914del (p.Gly305fs)

dbSNP: rs2152003847
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001873756 SCV002237739 pathogenic PRPH2-related disorder 2021-08-05 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.Trp316*) have been observed in individuals with PRPH2-related conditions (PMID: 9338584). 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: 1175277). This premature translational stop signal has been observed in individuals with autosomal dominant retinitis pigmentosa (PMID: 24938718). 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 creates a premature translational stop signal (p.Gly305Alafs*19) in the PRPH2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 42 amino acid(s) of the PRPH2 protein.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004819243 SCV005440650 pathogenic Retinitis pigmentosa 7; Pigmentary retinal dystrophy; Patterned macular dystrophy 1; Choroidal dystrophy, central areolar 2; Vitelliform macular dystrophy 3 criteria provided, single submitter clinical testing PM2_Supporting+PVS1_Strong+PS4_Moderate+PP1_Strong
Leiden Open Variation Database RCV001530335 SCV001745124 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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