Submissions for variant NM_206933.4(USH2A):c.3309C>A (p.Tyr1103Ter)

gnomAD frequency: 0.00001  dbSNP: rs397518011

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000824791	SCV000065521	pathogenic	Rare genetic deafness	2012-03-13	criteria provided, single submitter	clinical testing	The Tyr1103X variant in USH2A has not been reported in the literature nor previo usly identified by our laboratory. This nonsense variant leads to a premature te rmination codon at position 1103, which is predicted to lead to a truncated or a bsent protein. In summary, this variant meets our criteria to be classified as p athogenic (http://pcpgm.partners.org/LMM).
Counsyl	RCV000669871	SCV000794664	pathogenic	Usher syndrome type 2A; Retinitis pigmentosa 39	2017-10-10	criteria provided, single submitter	clinical testing
Blueprint Genetics	RCV001074200	SCV001239771	pathogenic	Retinal dystrophy	2019-03-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001386859	SCV001587241	pathogenic	not provided	2024-02-09	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Tyr1103*) 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 premature translational stop signal has been observed in individuals with retinitis pigmentosa or Usher syndrome (PMID: 25472526, 27460420). ClinVar contains an entry for this variant (Variation ID: 48499). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity	RCV001386859	SCV002020847	pathogenic	not provided	2020-07-27	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003450838	SCV004182356	pathogenic	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000041825	SCV004182357	pathogenic	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV003450838	SCV004208304	pathogenic	Retinitis pigmentosa 39	2023-08-29	criteria provided, single submitter	clinical testing
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital	RCV000041825	SCV000902402	pathogenic	Usher syndrome type 2A	2019-02-26	no assertion criteria provided	case-control
Natera, Inc.	RCV000041825	SCV002093936	pathogenic	Usher syndrome type 2A	2020-07-17	no assertion criteria provided	clinical testing