ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.828+3A>G

dbSNP: rs281865373
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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 RCV001897204 SCV002157244 uncertain significance PRPH2-related disorder 2022-10-04 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. This variant disrupts the c.828+3A nucleotide in the PRPH2 gene. Other variant(s) that disrupt this nucleotide have been determined to be pathogenic (PMID: 11139241, 11704030, 25675413, 26842753). This suggests that this nucleotide is clinically significant, and that variants that disrupt this position 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 create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1381824). This variant has been observed in individual(s) with clinical features of PRPH2-related conditions (Invitae). 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. It affects a nucleotide within the consensus splice site.

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