ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.230+7A>G

dbSNP: rs1970740052
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001338846 SCV001532547 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-01-21 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the RPGRIP1L gene. It does not directly change the encoded amino acid sequence of the RPGRIP1L protein. 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: 1035910). 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.
Fulgent Genetics, Fulgent Genetics RCV005014447 SCV005643965 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2024-02-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830406 SCV002089245 uncertain significance Familial aplasia of the vermis 2021-01-11 no assertion criteria provided clinical testing

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