ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.218+1G>T

gnomAD frequency: 0.00004  dbSNP: rs546692544
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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 RCV002018117 SCV002300770 likely pathogenic Cone-rod dystrophy 13; Leber congenital amaurosis 6 2023-11-05 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 2 of the RPGRIP1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in RPGRIP1 are known to be pathogenic (PMID: 11528500, 23105016). This variant is present in population databases (rs546692544, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1509729). 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 currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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