Submissions for variant NM_206933.4(USH2A):c.12697_12698del (p.Trp4233fs)

gnomAD frequency: 0.00002  dbSNP: rs764917754

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000670406	SCV000795256	likely pathogenic	Usher syndrome type 2A; Retinitis pigmentosa 39	2017-11-02	criteria provided, single submitter	clinical testing
Blueprint Genetics	RCV001074341	SCV001239916	likely pathogenic	Retinal dystrophy	2019-07-12	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001389896	SCV001591419	pathogenic	not provided	2023-05-02	criteria provided, single submitter	clinical testing	This variant is present in population databases (rs764917754, gnomAD 0.0009%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 554725). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. This sequence change creates a premature translational stop signal (p.Trp4233Aspfs*4) 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).
Genome-Nilou Lab	RCV003453302	SCV004181957	likely pathogenic	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003453301	SCV004181959	likely pathogenic	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV003453302	SCV004206351	likely pathogenic	Retinitis pigmentosa 39	2023-01-22	criteria provided, single submitter	clinical testing