ClinVar Miner

Submissions for variant NM_006915.3(RP2):c.884-14G>A

dbSNP: rs1602354996
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990805 SCV001141847 uncertain significance Retinitis pigmentosa 3 2019-05-28 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074033 SCV001239600 uncertain significance Retinal dystrophy 2018-10-31 criteria provided, single submitter clinical testing
DBGen Ocular Genomics RCV001593168 SCV001815973 uncertain significance Retinitis pigmentosa 2 2021-06-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002550621 SCV003315274 pathogenic not provided 2022-05-07 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 803988). This variant has been observed in individuals with RP2-related conditions (PMID: 32244552; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 3 of the RP2 gene. It does not directly change the encoded amino acid sequence of the RP2 protein. Studies have shown that this variant is associated with altered splicing resulting in multiple RNA products (PMID: 32244552). For these reasons, this variant has been classified as Pathogenic.

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