ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.2468_2477del (p.Ala823fs)

gnomAD frequency: 0.00001  dbSNP: rs771129715
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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 RCV001214686 SCV001386381 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-05-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala823Valfs*23) 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 present in population databases (rs771129715, gnomAD 0.003%). 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: 944314). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005012620 SCV005642051 likely pathogenic Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2024-06-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004733180 SCV005359371 likely pathogenic RPGRIP1L-related disorder 2024-04-09 no assertion criteria provided clinical testing The RPGRIP1L c.2468_2477del10 variant is predicted to result in a frameshift and premature protein termination (p.Ala823Valfs*23). This variant has been reported in study assessing carrier frequency of autosomal recessive variants in inherited retinal disease (Hanany et al. 2020. PubMed ID: 31964843). This variant is reported in 0.0026% of alleles in individuals of European (non-Finnish) descent in gnomAD. Frameshift variants in RPGRIP1L are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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