ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.1216del (p.Leu406fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003486516 SCV004242058 pathogenic Leber congenital amaurosis 2023-12-08 criteria provided, single submitter clinical testing Variant summary: RPGRIP1 c.1216delC (p.Leu406TyrfsX36) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 221782 control chromosomes. c.1216delC has been reported in the literature in the homozygous state in individuals affected with Leber Congenital Amaurosis (e.g. Skorczyk-Werner_2020). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 33308271). No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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