ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.581+1G>A

dbSNP: rs1761904690
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074831 SCV001240431 likely pathogenic Retinal dystrophy 2019-07-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001862577 SCV002238694 pathogenic PRPH2-related disorder 2021-10-29 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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 disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 866648). Disruption of this splice site has been observed in individual(s) with autosomal dominant pattern dystrophy (PMID: 16340530). It has also been observed to segregate with disease in related individuals. This sequence change affects a donor splice site in intron 1 of the PRPH2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in PRPH2 are known to be pathogenic (PMID: 8111389, 8485575, 8485576, 8675410, 16916875, 17504850, 25675413, 26061163, 27365499, 29555955).
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV001074831 SCV005069717 pathogenic Retinal dystrophy 2019-01-01 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001530310 SCV001745080 pathogenic 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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