Submissions for variant NM_206933.4(USH2A):c.6289_6302del (p.Leu2096_Ile2097insTer)

dbSNP: rs111033268

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041884	SCV000065580	likely pathogenic	Rare genetic deafness	2007-08-24	criteria provided, single submitter	clinical testing
Counsyl	RCV000673453	SCV000798657	likely pathogenic	Usher syndrome type 2A; Retinitis pigmentosa 39	2018-03-16	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001213783	SCV001385433	pathogenic	not provided	2024-05-23	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Ile2097*) 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 (rs111033268, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with clinical features of Usher syndrome 2A (USH2A) (PMID: 19788668, 20507924). ClinVar contains an entry for this variant (Variation ID: 48558). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab	RCV003450873	SCV004181677	likely pathogenic	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003450872	SCV004181678	likely pathogenic	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV003450873	SCV004208340	pathogenic	Retinitis pigmentosa 39	2024-01-10	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000673453	SCV005641049	pathogenic	Usher syndrome type 2A; Retinitis pigmentosa 39	2024-05-09	criteria provided, single submitter	clinical testing