ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.3432+6T>G

gnomAD frequency: 0.00001  dbSNP: rs543688285
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734477 SCV000862623 uncertain significance not provided 2018-08-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855814 SCV002208625 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-10-26 criteria provided, single submitter clinical testing This sequence change falls in intron 23 of the RPGRIP1L gene. It does not directly change the encoded amino acid sequence of the RPGRIP1L protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RPGRIP1L-related conditions. ClinVar contains an entry for this variant (Variation ID: 598150). 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.
Fulgent Genetics, Fulgent Genetics RCV002499376 SCV002779487 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2022-03-23 criteria provided, single submitter clinical testing

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