ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.198_202delinsAAGACACA (p.Met67_Gly68delinsArgHisArg)

dbSNP: rs63749073
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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 RCV001243703 SCV001416877 pathogenic PRPH2-related disorder 2023-05-23 criteria provided, single submitter clinical testing This variant, c.198_202delinsAAGACACA, is a complex sequence change that results in the deletion of 2 and insertion of 3 amino acid(s) in the PRPH2 protein (p.Met67_Gly68delinsArgHisArg). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has been observed in individuals with clinical features of autosomal dominant retinal disease (PMID: 8675410, 27628848; Invitae). It has also been observed to segregate with disease in related individuals. This variant is also known as 67-69 del/ins. For these reasons, this variant has been classified as Pathogenic.
Leiden Open Variation Database RCV001530296 SCV001745059 uncertain significance 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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