ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.829-1G>A

dbSNP: rs1582759782
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001862420 SCV002164083 uncertain significance PRPH2-related disorder 2021-12-08 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 829860). This variant has not been reported in the literature in individuals affected with PRPH2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 2 of the PRPH2 gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001029800 SCV001192579 likely pathogenic Adult-onset foveomacular vitelliform dystrophy 2019-06-05 no assertion criteria provided clinical testing

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