ClinVar Miner

Submissions for variant NM_001122769.3(LCA5):c.238C>T (p.Arg80Ter) (rs781035395)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000819586 SCV000960254 pathogenic not provided 2018-12-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg80*) in the LCA5 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs781035395, ExAC 0.006%). This variant has been observed in an individual affected with Leber congenital amaurosis (PMID: 26047050). Loss-of-function variants in LCA5 are known to be pathogenic (PMID: 17546029, 23946133). For these reasons, this variant has been classified as Pathogenic.
Sharon lab,Hadassah-Hebrew University Medical Center RCV001003074 SCV001161131 pathogenic Leber congenital amaurosis 2019-06-23 no assertion criteria provided research

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