ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.2591_2592del (p.Tyr864fs)

dbSNP: rs772028612
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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 RCV001942013 SCV002235068 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2020-10-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr864Cysfs*3) 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). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with RPGRIP1L-related conditions. This variant is present in population databases (rs772028612, ExAC 0.006%).
Fulgent Genetics, Fulgent Genetics RCV005016943 SCV005642044 likely pathogenic Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2024-03-26 criteria provided, single submitter clinical testing

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