Submissions for variant NM_206933.4(USH2A):c.4532C>T (p.Ala1511Val)

gnomAD frequency: 0.00021  dbSNP: rs201710470

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041843	SCV000065539	likely benign	not specified	2014-08-11	criteria provided, single submitter	clinical testing	Ala1511Val in Exon 21A of USH2A: This variant is not expected to have clinical s ignificance because the alanine (Ala) residue at position 1511 is poorly conserv ed across species, with two mammals (prairie vole and wallaby) having a valine ( Val) at this position, and computational tools (biochemical amino acid propertie s, conservation, AlignGVGD, PolyPhen2, and SIFT) do not suggest an impact to the protein. The Ala1511Val variant has been identified in 1/8600 European American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu ; dbSNP rs201710470).
Invitae	RCV001033957	SCV001197277	likely benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
GeneDx	RCV001033957	SCV001886195	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003450846	SCV004182232	likely benign	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003450845	SCV004182233	likely benign	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing