Submissions for variant NM_206933.4(USH2A):c.9119G>A (p.Trp3040Ter)

dbSNP: rs1269642027

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000670876	SCV000795789	likely pathogenic	Usher syndrome type 2A; Retinitis pigmentosa 39	2017-11-17	criteria provided, single submitter	clinical testing
Invitae	RCV001381383	SCV001579754	pathogenic	not provided	2023-11-06	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Trp3040*) 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 individual(s) with Usher syndrome (PMID: 28005958, 30459346). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 555123). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab	RCV003453315	SCV004182735	likely pathogenic	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001830449	SCV004182736	likely pathogenic	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001830449	SCV002088415	pathogenic	Usher syndrome type 2A	2020-09-09	no assertion criteria provided	clinical testing