ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1489G>T (p.Glu497Ter) (rs756821449)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000365145 SCV000329500 pathogenic not provided 2016-10-11 criteria provided, single submitter clinical testing The E497X pathogenic variant in the RPGRIP1L gene has not been reported previously as a germline pathogenic variant, nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The E497X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret E497X as a pathogenic variant.
Invitae RCV000797386 SCV000936940 pathogenic Joubert syndrome; Meckel-Gruber syndrome 2019-10-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu497*) in the RPGRIP1L gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs756821449, ExAC 0.003%). This variant has not been reported in the literature in individuals with RPGRIP1L-related disease. ClinVar contains an entry for this variant (Variation ID: 279885). Loss-of-function variants in RPGRIP1L are known to be pathogenic (PMID: 17558409). For these reasons, this variant has been classified as Pathogenic.

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