Submissions for variant NM_206933.4(USH2A):c.9860_9873del (p.His3287fs)

dbSNP: rs1388040238

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001383885	SCV001583204	pathogenic	not provided	2023-11-18	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.His3287Profs*54) 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 0.003%). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 28041643). ClinVar contains an entry for this variant (Variation ID: 438035). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics	RCV002496963	SCV002810918	likely pathogenic	Usher syndrome type 2A; Retinitis pigmentosa 39	2022-02-04	criteria provided, single submitter	clinical testing
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation	RCV000504990	SCV003927119	pathogenic	Usher syndrome	2022-12-31	criteria provided, single submitter	research
Neuberg Centre For Genomic Medicine, NCGM	RCV001829439	SCV004100575	pathogenic	Usher syndrome type 2A		criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003449430	SCV004182641	likely pathogenic	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001829439	SCV004182643	likely pathogenic	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV003449430	SCV004206450	pathogenic	Retinitis pigmentosa 39	2024-02-29	criteria provided, single submitter	clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge	RCV000504834	SCV000598844	uncertain significance	Retinitis pigmentosa	2015-01-01	no assertion criteria provided	research
NIHR Bioresource Rare Diseases, University of Cambridge	RCV000504990	SCV000598845	uncertain significance	Usher syndrome	2015-01-01	no assertion criteria provided	research
Natera, Inc.	RCV001829439	SCV002088381	pathogenic	Usher syndrome type 2A	2021-04-15	no assertion criteria provided	clinical testing