ClinVar Miner

Submissions for variant NM_001122769.3(LCA5):c.574dup (p.Thr192fs)

dbSNP: rs1057519136
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000415875 SCV000493290 likely pathogenic not provided 2016-08-01 criteria provided, single submitter clinical testing
Invitae RCV000415875 SCV004459592 pathogenic not provided 2023-04-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr192Asnfs*4) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 374516). This variant has not been reported in the literature in individuals affected with LCA5-related conditions.
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001257107 SCV001433627 pathogenic Leber congenital amaurosis 5 no assertion criteria provided research

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