ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1029+3A>C

gnomAD frequency: 0.00005  dbSNP: rs778583149
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001366976 SCV001563302 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-08-06 criteria provided, single submitter clinical testing This sequence change falls in intron 8 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 present in population databases (rs778583149, gnomAD 0.02%). 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: 1057906). 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 disrupt the consensus 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.
Fulgent Genetics, Fulgent Genetics RCV002499749 SCV002789368 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2021-12-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826055 SCV002085746 uncertain significance Familial aplasia of the vermis 2020-06-06 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004733274 SCV005367615 uncertain significance RPGRIP1L-related disorder 2024-09-05 no assertion criteria provided clinical testing The RPGRIP1L c.1029+3A>C variant is predicted to interfere with splicing. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.020% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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