ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.427C>T (p.Gln143Ter)

dbSNP: rs1970430433
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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 RCV002568267 SCV002991647 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-10-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln143*) 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: 1185042). For these reasons, this variant has been classified as Pathogenic.
Center for Molecular Medicine, Children’s Hospital of Fudan University RCV001543697 SCV001762394 likely pathogenic Meckel syndrome, type 5 2021-07-30 no assertion criteria provided clinical testing For the RPGRIP1L gene, loss of function is a known mechanism of disease. c.427C>T causes a premature stop codon (p.Gln143Ter). Many truncating mutations, located after c.427 position, have been identified in MKS5 cases (PMID:17558409,23351400) .Meanwhile, this variant has never been reported or appeared in the 1000 Genome Project, the EXAC or the gnomAD database. This variants is classified as likely pathogenic.

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