ClinVar Miner

Submissions for variant NM_001122769.3(LCA5):c.795T>G (p.Tyr265Ter)

gnomAD frequency: 0.00001  dbSNP: rs1453987164
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001207493 SCV001378849 pathogenic not provided 2023-10-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr265*) 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 present in population databases (no rsID available, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with Leber congenital amaurosis (PMID: 23661368, 23946133). ClinVar contains an entry for this variant (Variation ID: 938300). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002504243 SCV002810930 pathogenic Leber congenital amaurosis 5 2022-02-25 criteria provided, single submitter clinical testing
Baylor Genetics RCV002504243 SCV004191022 pathogenic Leber congenital amaurosis 5 2024-01-04 criteria provided, single submitter clinical testing

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