ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.829-4C>G

dbSNP: rs1582759785
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987694 SCV001137113 pathogenic Patterned macular dystrophy 1 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001039037 SCV001202544 pathogenic PRPH2-related disorder 2022-10-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 802213). This variant has been observed in individuals with autosomal dominant retinitis pigmentosa (PMID: 25447119). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 2 of the PRPH2 gene. It does not directly change the encoded amino acid sequence of the PRPH2 protein.
Leiden Open Variation Database RCV001530261 SCV001745012 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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