ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter) (rs121918204)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program,University of Washington RCV000001131 SCV000256462 pathogenic Joubert syndrome 7 2015-02-23 criteria provided, single submitter research
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000001131 SCV000784361 pathogenic Joubert syndrome 7 2018-03-05 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000762962 SCV000893403 pathogenic Joubert syndrome with hepatic defect; Joubert syndrome 7; Meckel syndrome, type 5 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000824619 SCV000965524 pathogenic Joubert syndrome; Meckel-Gruber syndrome 2020-01-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln684*) in the RPGRIP1L gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs121918204, ExAC 0.02%). This variant has been observed in several individuals affected with RPGRIP1L-related disease (PMID: 17558407, 21866095, 26092869). ClinVar contains an entry for this variant (Variation ID: 1076). Loss-of-function variants in RPGRIP1L are known to be pathogenic (PMID: 17558409). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000001131 SCV000021281 pathogenic Joubert syndrome 7 2007-07-01 no assertion criteria provided literature only

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