Submissions for variant NM_206933.4(USH2A):c.6874C>T (p.Arg2292Cys)

dbSNP: rs727503722

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000152598	SCV000201888	uncertain significance	not specified	2014-08-11	criteria provided, single submitter	clinical testing	Variant classified as Uncertain Significance - Favor Benign. The Arg2292Cys vari ant in USH2A has not been previously reported in individuals with hearing loss a nd was absent from large population studies. The arginine (Arg) at position 2292 is not conserved in mammals or evolutionary distant species, raising the possib ility that a change at this position may be tolerated. Additional computational prediction tools suggest that the Arg2292Cys variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, while the clinical significance of the Arg2292Cys variant is uncertain, these data suggest that is more likely to be benign.
Counsyl	RCV000673465	SCV000798669	uncertain significance	Usher syndrome type 2A; Retinitis pigmentosa 39	2018-03-16	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003453125	SCV004181604	uncertain significance	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001271993	SCV004181605	uncertain significance	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001271993	SCV001453621	uncertain significance	Usher syndrome type 2A	2020-03-10	no assertion criteria provided	clinical testing