ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.1078-4T>G

gnomAD frequency: 0.00001  dbSNP: rs548990299
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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 RCV001240528 SCV001413479 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2023-03-23 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 965962). This variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions. This variant is present in population databases (rs548990299, gnomAD 0.003%). This sequence change falls in intron 8 of the RPGRIP1 gene. It does not directly change the encoded amino acid sequence of the RPGRIP1 protein. 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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