ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.3238+4T>C

gnomAD frequency: 0.00002  dbSNP: rs748207531
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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 RCV001245551 SCV001418846 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2021-08-20 criteria provided, single submitter clinical testing This sequence change falls in intron 19 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 of the intron. This variant is present in population databases (rs748207531, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions. 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 is not likely to affect RNA splicing. 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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