ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1329dup (p.Arg444fs) (rs749987648)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000690667 SCV000818366 pathogenic Joubert syndrome; Meckel-Gruber syndrome 2018-06-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg444Thrfs*10) in the RPGRIP1L gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RPGRIP1L-related disease. Loss-of-function variants in RPGRIP1L are known to be pathogenic (PMID: 17558409). For these reasons, this variant has been classified as Pathogenic.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727930 SCV000855443 pathogenic not provided 2017-07-19 criteria provided, single submitter clinical testing

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