ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.654_655del (p.Pro219fs)

dbSNP: rs2152005328
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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 RCV001873751 SCV002232020 pathogenic PRPH2-related disorder 2021-06-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro219Thrfs*81) in the PRPH2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 128 amino acid(s) 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. This variant has been observed in individual(s) with retinal disease (PMID: 29555955). This variant is not present in population databases (ExAC no frequency).
Leiden Open Variation Database RCV001530241 SCV001744983 pathogenic not provided 2021-02-14 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitter to LOVD: LOVD.

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