ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter) (rs121918203)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000790748 SCV000226652 pathogenic not provided 2013-09-20 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000762961 SCV000893402 likely pathogenic Joubert syndrome with hepatic defect; Joubert syndrome 7; Meckel syndrome, type 5 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000779628 SCV000914250 uncertain significance RPGRIP1L-Related Disorders 2019-04-08 criteria provided, single submitter clinical testing The RPGRIP1L c.2614C>T (p.Gln872Ter) variant is a stop-gained variant predicted to result in premature termination of the protein. The p.Gln872Ter variant has been reported in one study in which it was found in a compound heterozygous state with a second stop-gained variant in a fetus diagnosed with Meckel syndrome (Delous et al. 2007). Control data are unavailable for this variant, which is reported at a frequency of 0.00005 in the European (non-Finnish) population of the Exome Aggregation Consortium. Based on the limited evidence and the potential impact of stop-gained variants, the p.Gln872Ter variant is classified as a variant of unknown significance but suspicious for pathogenicity for RPGRIP1L -related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Invitae RCV001059320 SCV001223942 pathogenic Joubert syndrome; Meckel-Gruber syndrome 2020-08-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln872*) in the RPGRIP1L gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs121918203, ExAC 0.01%). This variant has been observed in a fetus with clinical features of Meckel syndrome (PMID: 17558409). ClinVar contains an entry for this variant (Variation ID: 1074). Loss-of-function variants in RPGRIP1L are known to be pathogenic (PMID: 17558409). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000033207 SCV000057053 pathogenic Meckel syndrome, type 5 2007-07-01 no assertion criteria provided literature only

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