ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.2451C>A (p.Tyr817Ter)

dbSNP: rs145807002
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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 RCV001972569 SCV002242694 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-04-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with RPGRIP1L-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr817*) 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).
Fulgent Genetics, Fulgent Genetics RCV005016953 SCV005642053 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 RCV004728993 SCV005337287 likely pathogenic RPGRIP1L-related disorder 2024-08-15 no assertion criteria provided clinical testing The RPGRIP1L c.2451C>A variant is predicted to result in premature protein termination (p.Tyr817*). To our knowledge, this variant has not been reported in the literature in individuals with RPGRIP1L-related disease, nor has this variant been reported in a large population database, indicating this variant is rare. Nonsense variants in RPGRIP1L are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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