Submissions for variant NM_206933.4(USH2A):c.11816_11822dup (p.Val3942fs)

dbSNP: rs1659891151

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001231158	SCV001403667	pathogenic	not provided	2024-04-22	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Val3942Ilefs*7) in the USH2A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 958065). For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV001823185	SCV002072649	pathogenic	Retinitis pigmentosa	2021-10-20	criteria provided, single submitter	clinical testing	additional variants: c.12823T>A, p.Ser4275Thr and c.2072G>A, p.Cys691Tyr, classified as VUS
Genome-Nilou Lab	RCV003449724	SCV004182070	pathogenic	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV004813931	SCV005069105	pathogenic	Retinal dystrophy	2015-01-01	no assertion criteria provided	clinical testing