ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1103+5A>G

gnomAD frequency: 0.00001  dbSNP: rs773167560
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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 RCV001981234 SCV002283421 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2021-08-13 criteria provided, single submitter clinical testing This sequence change falls in intron 9 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 of the intron. This variant is present in population databases (rs773167560, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with RPGRIP1L-related conditions. 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 may create or strengthen a 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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