Submissions for variant NM_206933.4(USH2A):c.1144-2A>T

dbSNP: rs2037686445

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV001268230	SCV001447006	pathogenic	not provided	2020-10-23	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001779148	SCV002015093	pathogenic	Usher syndrome	2021-10-27	criteria provided, single submitter	clinical testing	Variant summary: USH2A c.1144-2A>T is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Four predict the variant abolishes a 3 acceptor site. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 242160 control chromosomes (gnomAD). c.1144-2A>T has been reported in the literature in individuals affected with Usher Syndrome (e.g. Cremers_2007, Bonnet_2016, Zhu_2021). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. A ClinVar submitter (evaluation after 2014) cites the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Fulgent Genetics, Fulgent Genetics	RCV002491871	SCV002781566	pathogenic	Usher syndrome type 2A; Retinitis pigmentosa 39	2022-03-09	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003446678	SCV004172209	pathogenic	Retinitis pigmentosa 39	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003446677	SCV004172210	pathogenic	Usher syndrome type 2A	2023-04-11	criteria provided, single submitter	clinical testing