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

dbSNP: rs1554268546

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003591740	SCV004293318	pathogenic	PRPH2-related disorder	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.