Submissions for variant NM_173477.5(USH1G):c.1012G>A (p.Gly338Arg)

gnomAD frequency: 0.00068  dbSNP: rs151242039

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155317	SCV000205003	benign	not specified	2017-07-13	criteria provided, single submitter	clinical testing	The p.Gly338Arg variant in USH1G is not expected to have clinical significance b ecause it has been identified in 0.75% (76/10120) of Ashkenazi Jewish chromosome s including 1 homozygote by the Genome Aggregation Database (gnomAD, http://gnom ad.broadinstitute.org; dbSNP rs151242039). The glycine (Gly) at position 338 is not well conserved in mammals or evolutionary distant species, and at least 2 ma mmals (lesser Egyptian jerboa, elephant) carry an arginine (Arg), supporting tha t the change at this position is tolerated.
GeneDx	RCV000882060	SCV000534093	likely benign	not provided	2020-12-14	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 17896313)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000155317	SCV000605536	likely benign	not specified	2016-06-13	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000155317	SCV000704504	likely benign	not specified	2017-01-06	criteria provided, single submitter	clinical testing
Invitae	RCV000882060	SCV001025278	benign	not provided	2023-12-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003975213	SCV004787768	benign	USH1G-related condition	2019-12-09	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).