ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.71dup (p.Met24fs)

gnomAD frequency: 0.00001  dbSNP: rs990678342
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002037892 SCV002228258 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met24Ilefs*25) 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: 1453353). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002484796 SCV002794002 likely pathogenic Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2021-12-02 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003130635 SCV003814003 likely pathogenic not provided 2022-04-07 criteria provided, single submitter clinical testing
GeneDx RCV003130635 SCV004037001 likely pathogenic not provided 2023-09-17 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004728987 SCV005336624 likely pathogenic RPGRIP1L-related disorder 2024-08-12 no assertion criteria provided clinical testing The RPGRIP1L c.71dupT variant is predicted to result in a frameshift and premature protein termination (p.Met24Ilefs*25). This variant has not been reported in the literature or in a large population database, indicating it is rare. Frameshift variants in RPGRIP1L are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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