ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.3340-3C>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002731308 SCV003015953 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-04-25 criteria provided, single submitter clinical testing This sequence change falls in intron 20 of the RPGRIP1 gene. It does not directly change the encoded amino acid sequence of the RPGRIP1 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with RPGRIP1-related conditions (external communication). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. 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.

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