ClinVar Miner

Submissions for variant NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter)

dbSNP: rs866395428
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624398 SCV000741411 pathogenic Inborn genetic diseases 2016-03-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001382408 SCV001581162 pathogenic not provided 2024-11-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg280*) in the LCA5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LCA5 are known to be pathogenic (PMID: 17546029, 23946133). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with LCA5-related conditions (PMID: 8571951, 28041643). ClinVar contains an entry for this variant (Variation ID: 438153). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001834629 SCV004190589 pathogenic Leber congenital amaurosis 5 2023-10-26 criteria provided, single submitter clinical testing
GeneDx RCV001382408 SCV005401403 pathogenic not provided 2024-05-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 25412400, 8571951, 32581362, 28041643, 29068479, 32865313)
Fulgent Genetics, Fulgent Genetics RCV001834629 SCV005671866 pathogenic Leber congenital amaurosis 5 2024-06-01 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504935 SCV000599082 pathogenic Retinal dystrophy 2015-01-01 no assertion criteria provided research
NIHR Bioresource Rare Diseases, University of Cambridge RCV000505126 SCV000599083 pathogenic Leber congenital amaurosis 2015-01-01 no assertion criteria provided research
Natera, Inc. RCV001834629 SCV002076784 pathogenic Leber congenital amaurosis 5 2021-02-12 no assertion criteria provided clinical testing

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