ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.2895+3A>G

gnomAD frequency: 0.00001  dbSNP: rs769634650
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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 RCV001983361 SCV002244946 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-07-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions. 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. 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: 1461537). This variant is present in population databases (rs769634650, gnomAD 0.004%). This sequence change falls in intron 17 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.

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