ClinVar Miner

Submissions for variant NM_001122769.3(LCA5):c.439_449dup (p.Phe150_Glu151insTer)

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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 RCV005087741 SCV005726352 pathogenic Leber congenital amaurosis 2024-11-13 criteria provided, single submitter clinical testing Variant summary: LCA5 c.439_449dup11 (p.Glu151X) 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 allele was found at a frequency of 4e-06 in 250794 control chromosomes. c.439_449dup11 has been reported in the literature in at least a homozygous individual affected with Leber Congenital Amaurosis (MacKay_2013). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 31964843, 23946133). No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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