Submissions for variant NM_206933.4(USH2A):c.9056-2A>G

gnomAD frequency: 0.00001  dbSNP: rs754970095

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV001091128	SCV001246993	pathogenic	not provided	2017-09-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001091128	SCV001410671	pathogenic	not provided	2024-07-15	criteria provided, single submitter	clinical testing	This sequence change affects an acceptor splice site in intron 45 of the USH2A gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in the loss of 51 amino acid residue(s), but is expected to preserve the integrity of the reading-frame. This variant is present in population databases (rs754970095, gnomAD 0.003%). Disruption of this splice site has been observed in individual(s) with USH2A-related conditions (PMID: 25649381, 30718709). ClinVar contains an entry for this variant (Variation ID: 636128). Studies have shown that disruption of this splice site results in the activation of a cryptic splice site in exon 46 (PMID: 25649381). For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV001091128	SCV001447769	pathogenic	not provided	2020-10-23	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001830680	SCV004172051	pathogenic	Usher syndrome type 2A	2023-04-11	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV003461062	SCV004208346	pathogenic	Retinitis pigmentosa 39	2024-02-08	criteria provided, single submitter	clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV004818014	SCV005072220	pathogenic	Retinal dystrophy	2022-01-01	criteria provided, single submitter	clinical testing
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	RCV000787742	SCV000926746	pathogenic	Retinitis pigmentosa	2018-04-01	no assertion criteria provided	research
Natera, Inc.	RCV001830680	SCV002088418	pathogenic	Usher syndrome type 2A	2021-01-21	no assertion criteria provided	clinical testing