Submissions for variant NM_206933.4(USH2A):c.3296_3297del (p.Thr1099fs)

dbSNP: rs748369458

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000727695	SCV000855038	pathogenic	not provided	2018-08-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000727695	SCV001248855	pathogenic	not provided	2019-01-01	criteria provided, single submitter	clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear	RCV001376321	SCV001573425	likely pathogenic	Retinitis pigmentosa 39	2021-04-08	criteria provided, single submitter	research	The USH2A c.3296_3297del variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2. Based on this evidence we have classified this variant as Likely pathogenic.
Genome-Nilou Lab	RCV001376321	SCV004182358	likely pathogenic	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001376321	SCV004208314	pathogenic	Retinitis pigmentosa 39	2023-08-24	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000727695	SCV004533360	pathogenic	not provided	2023-02-13	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Thr1099Argfs*27) 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 variant has not been reported in the literature in individuals affected with USH2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 592698). For these reasons, this variant has been classified as Pathogenic.