ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.868_869del (p.Leu290fs)

dbSNP: rs2152003863
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002568179 SCV003439376 pathogenic PRPH2-related disorder 2023-05-15 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with autosomal dominant pattern dystrophy (PMID: 12045052). 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.Val332Glu) have been determined to be pathogenic (PMID: 30718709, 32531846). 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: 1175276). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu290Glyfs*10) in the PRPH2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 57 amino acid(s) of the PRPH2 protein.
Leiden Open Variation Database RCV001530333 SCV001745119 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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