ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.2468_2477del (p.Ala823fs)

gnomAD frequency: 0.00001  dbSNP: rs771129715
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001214686 SCV001386381 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-08-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 944314). This variant has not been reported in the literature in individuals affected with RPGRIP1L-related conditions. This variant is present in population databases (rs771129715, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Ala823Valfs*23) in the RPGRIP1L gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RPGRIP1L are known to be pathogenic (PMID: 17558409).

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