Submissions for variant NM_206933.4(USH2A):c.6524G>A (p.Arg2175His)

gnomAD frequency: 0.00007  dbSNP: rs140845899

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155326	SCV000205012	likely benign	not specified	2014-08-12	criteria provided, single submitter	clinical testing	p.Arg2175His in exon 34 of USH2A: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, 5 mammals (prairie vole, Chinese hamster, naked mole rat, guinea pig, and chinchilla) have a histidine (His) at this position despite high nearby amino a cid conservation. This variant has been identified in 0.26% (22/8612) of East As ian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinst itute.org; dbSNP rs140845899).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000928255	SCV001073862	likely benign	not provided	2025-01-20	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003453170	SCV004181650	likely benign	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003453169	SCV004181651	likely benign	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888602	SCV004707967	likely benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Breakthrough Genomics, Breakthrough Genomics	RCV000928255	SCV005263695	likely benign	not provided		criteria provided, single submitter	not provided