ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs) (rs778149316)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000168109 SCV000218765 pathogenic Joubert syndrome; Meckel-Gruber syndrome 2018-09-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp571Glyfs*12) in the RPGRIP1L gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs778149316, ExAC 0.05%). This variant has been reported in combination with another RPGRIP1L variant in an individual with Joubert syndrome (PMID: 26092869). Loss-of-function variants in RPGRIP1L are known to be pathogenic (PMID: 17558409). For these reasons, this variant has been classified as Pathogenic.
UW Hindbrain Malformation Research Program,University of Washington RCV000201673 SCV000256470 pathogenic Joubert syndrome 7 2015-02-23 criteria provided, single submitter research

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