Submissions for variant NM_206933.4(USH2A):c.10415A>G (p.Tyr3472Cys)

dbSNP: rs1553261469

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000609836	SCV000731628	uncertain significance	not specified	2017-07-27	criteria provided, single submitter	clinical testing	Variant classified as Uncertain Significance - Favor Pathogenic. The p.Tyr3472Cy s variant in USH2A has been reported by our laboratory in one individual with he aring loss, who has another variant of uncertain significance on the same copy a nd a pathogenic variant on the other copy of the USH2A gene. The p.Tyr3472Cys va riant has not been identified in large population studies. Computational predict ion tools and conservation analyses suggest that this variant may impact the pro tein, and splice prediction tools suggest the possible creation of a 5' cryptic splice site; however, this information is not predictive enough to determine pat hogenicity. In summary, while there is some suspicion of a pathogenic role, the clinical significance of the p.Tyr3472Cys variant is uncertain.
GeneDx	RCV001755995	SCV001985897	uncertain significance	not provided	2020-12-08	criteria provided, single submitter	clinical testing	Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab	RCV003451456	SCV004182563	uncertain significance	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001834954	SCV004182565	uncertain significance	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001834954	SCV002088358	uncertain significance	Usher syndrome type 2A	2020-02-26	no assertion criteria provided	clinical testing