ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.2711-2A>G

gnomAD frequency: 0.00002  dbSNP: rs766443371
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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 RCV001238537 SCV001411355 pathogenic Cone-rod dystrophy 13; Leber congenital amaurosis 6 2023-11-27 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 16 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 (rs766443371, gnomAD 0.02%). Disruption of this splice site has been observed in individuals with clinical features of Leber congenital amaurosis (Invitae). ClinVar contains an entry for this variant (Variation ID: 964341). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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