ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.663dup (p.Asn222Ter)

gnomAD frequency: 0.00001  dbSNP: rs1233376985
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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 RCV001863942 SCV002126003 pathogenic Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-11-15 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Asn222*) in the RPGRIP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RPGRIP1 are known to be pathogenic (PMID: 11528500, 23105016). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1357904).

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