ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1072_1073dup (p.Leu358fs) (rs1060501006)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474386 SCV000544803 pathogenic Joubert syndrome; Meckel-Gruber syndrome 2016-07-11 criteria provided, single submitter clinical testing This sequence change inserts 2 nucleotides in exon 9 of the RPGRIP1L mRNA (c.1072_1073dupTT), causing a frameshift at codon 358. This creates a premature translational stop signal (p.Leu358Phefs*2) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in RPGRIP1L are known to be pathogenic (PMID: 17558409). For these reasons, this variant has been classified as Pathogenic.

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