ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.641_652del (p.Cys214_Ser217del)

dbSNP: rs1800115217
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001327395 SCV001518470 pathogenic PRPH2-related disorder 2023-07-17 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1026875). This variant disrupts a region of the PRPH2 protein in which other variant(s) (p.Pro216Leu) have been determined to be pathogenic (PMID: 1684223, 12925772, 28076437). 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. This variant has not been reported in the literature in individuals affected with PRPH2-related conditions. This variant, c.641_652del, results in the deletion of 4 amino acid(s) of the PRPH2 protein (p.Cys214_Ser217del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency).

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