Submissions for variant NM_206933.4(USH2A):c.11728G>C (p.Glu3910Gln)

dbSNP: rs1436435041

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000601054	SCV000713102	uncertain significance	not specified	2017-04-20	criteria provided, single submitter	clinical testing	The p.Glu3910Gln variant in USH2A has not been previously reported in individual s with hearing loss or Usher syndrome and was absent from large population studi es. Glutamic acid (Glu) at position 3910 is not conserved in mammals or evolutio narily distant species raising the possibility that this change may be tolerated . Additional computational prediction tools suggest that the p.Glu3910Gln varian t may not impact the protein, though this information is not predictive enough t o rule out pathogenicity. In summary, the clinical significance of the Glu3910Gl n variant is uncertain.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003117375	SCV003799710	uncertain significance	not provided	2022-03-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003451373	SCV004182079	uncertain significance	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001829713	SCV004182082	uncertain significance	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001829713	SCV002088323	uncertain significance	Usher syndrome type 2A	2021-10-13	no assertion criteria provided	clinical testing