ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.809_810del (p.Leu270fs)

dbSNP: rs1800109348
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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 RCV001062465 SCV001227267 pathogenic PRPH2-related disorder 2019-12-11 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PRPH2-related conditions. This sequence change results in a premature translational stop signal in the PRPH2 gene (p.Leu270Profs*30). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 77 amino acids of the PRPH2 protein. For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the PRPH2 protein. Other variant(s) that disrupt this region (p.Leu307Argfs*17) have been determined to be pathogenic (PMID: 22183351, 8019570, 24265693). This suggests that variants that disrupt this region of the protein are likely to be causative of disease.
Leiden Open Variation Database RCV001530255 SCV001745003 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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