Submissions for variant NM_206933.4(USH2A):c.7047G>A (p.Trp2349Ter)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	RCV002789978	SCV003761262	pathogenic	Usher syndrome type 2A	2023-01-25	criteria provided, single submitter	curation	The homozygous p.Trp2349Ter variant in USH2A was identified by our study in one individual with congenital hearing loss. The p.Trp2349Ter variant in USH2A has not been reported in individuals with Usher syndrome type 2A.This variant was absent in large population studies. This nonsense variant leads to a premature termination codon at position 2349, which is predicted to lead to a truncated or absent protein. Loss of function of the USH2A gene is an established disease mechanism in autosomal recessive Usher syndrome type 2A. In summary, this variant meets criteria to be classified as pathogenic for autosomal recessive primary Usher syndrome type 2A. ACMG/AMP Criteria applied: PVS1, PM2_Supporting, PM3_Supporting (Richards 2015).
Baylor Genetics	RCV003466008	SCV004208213	likely pathogenic	Retinitis pigmentosa 39	2023-10-05	criteria provided, single submitter	clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV004818284	SCV005068430	pathogenic	Retinal dystrophy	2021-01-01	criteria provided, single submitter	clinical testing