Submissions for variant NM_206933.4(USH2A):c.12232G>T (p.Glu4078Ter)

dbSNP: rs988693758

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000668946	SCV000793629	likely pathogenic	Usher syndrome type 2A; Retinitis pigmentosa 39	2017-08-28	criteria provided, single submitter	clinical testing
Invitae	RCV001062119	SCV001226897	pathogenic	not provided	2023-11-13	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Glu4078*) 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 present in population databases (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individuals with Usher syndrome (PMID: 26969326, 28559085). ClinVar contains an entry for this variant (Variation ID: 553479). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics	RCV001074255	SCV001239828	pathogenic	Retinal dystrophy	2019-05-02	criteria provided, single submitter	clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV001062119	SCV001447948	pathogenic	not provided	2020-10-23	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003453277	SCV004182027	likely pathogenic	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001829851	SCV004182028	likely pathogenic	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV003453277	SCV004206352	pathogenic	Retinitis pigmentosa 39	2024-03-12	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001829851	SCV002088316	pathogenic	Usher syndrome type 2A	2021-04-05	no assertion criteria provided	clinical testing