ClinVar Miner

Submissions for variant NM_004744.5(LRAT):c.40G>T (p.Glu14Ter)

gnomAD frequency: 0.00001  dbSNP: rs768255532
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000826116 SCV000967624 likely pathogenic Leber congenital amaurosis 2018-12-27 criteria provided, single submitter clinical testing The p.Glu14X variant in LRAT has not been previously reported in individuals wit h Leber congenital amaurosis and was absent from large population studies. This nonsense variant leads to a premature termination codon at position 14, which is predicted to lead to a truncated or absent protein. Loss of function of the LRA T gene is strongly associated with autosomal recessive Leber congenital amaurosi s. In summary, although additional studies are required to fully establish its c linical significance, this variant meets criteria to be classified as likely pat hogenic for Leber congenital amaurosis in an autosomal recessive manner. ACMG/AM P Criteria applied: PVS1_Strong, PM2.

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