ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.860_867del (p.Gln287fs)

dbSNP: rs1554268546
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003591740 SCV004293318 pathogenic PRPH2-Related Disorders 2024-01-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln287Profs*11) in the PRPH2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 60 amino acid(s) of the PRPH2 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of PRPH2-related conditions (PMID: 28041643). ClinVar contains an entry for this variant (Variation ID: 437968). This variant disrupts a region of the PRPH2 protein in which other variant(s) (p.Val332Glu) have been determined to be pathogenic (PMID: 30718709, 32531846; 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. For these reasons, this variant has been classified as Pathogenic.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000505041 SCV000598705 likely pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research
Leiden Open Variation Database RCV001530331 SCV001745116 pathogenic not provided 2021-01-27 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitter to LOVD: LOVD.

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