ClinVar Miner

Submissions for variant NM_001122769.3(LCA5):c.652C>T (p.Arg218Ter)

gnomAD frequency: 0.00002  dbSNP: rs1318750068
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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 RCV001380668 SCV001578796 pathogenic not provided 2022-07-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Arg218*) 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 0.006%). This variant has not been reported in the literature in individuals affected with LCA5-related conditions. ClinVar contains an entry for this variant (Variation ID: 1068963).
Baylor Genetics RCV003469653 SCV004191021 likely pathogenic Leber congenital amaurosis 5 2024-03-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003469653 SCV005671870 likely pathogenic Leber congenital amaurosis 5 2024-03-28 criteria provided, single submitter clinical testing

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