Submissions for variant NM_001122769.3(LCA5):c.1062_1068del (p.Cys353_Tyr354insTer)

dbSNP: rs1769845495

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Revvity Omics, Revvity	RCV001030781	SCV002017101	pathogenic	Leber congenital amaurosis 5	2021-10-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001858899	SCV002239089	pathogenic	not provided	2023-05-21	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Tyr354*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 810630). This premature translational stop signal has been observed in individual(s) with LCA5-related conditions (PMID: 24474277, 32214227). This variant is not present in population databases (gnomAD no frequency).
Baylor Genetics	RCV001030781	SCV004190593	pathogenic	Leber congenital amaurosis 5	2023-10-21	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001030781	SCV005672903	pathogenic	Leber congenital amaurosis 5	2024-04-02	criteria provided, single submitter	clinical testing
Section for Clinical Neurogenetics, University of Tübingen	RCV001030781	SCV001156089	pathogenic	Leber congenital amaurosis 5	2019-08-01	no assertion criteria provided	research