ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1645G>T (p.Glu549Ter)

gnomAD frequency: 0.00001  dbSNP: rs1676833644
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001384117 SCV001583502 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-04-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu549*) in the RPGRIP1L gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RPGRIP1L are known to be pathogenic (PMID: 17558409). 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: 1071605). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005014532 SCV005642098 likely pathogenic Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2024-02-14 criteria provided, single submitter clinical testing

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