ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.828+1G>T

dbSNP: rs1800108516
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001927187 SCV002166827 pathogenic PRPH2-related disorder 2022-10-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the PRPH2 protein in which other variant(s) (p.Gln304*) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. 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. ClinVar contains an entry for this variant (Variation ID: 1393616). Disruption of this splice site has been observed in individual(s) with inherited retinal degenerations (PMID: 32037395). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor 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.

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