Submissions for variant NM_206933.4(USH2A):c.5048A>G (p.Asn1683Ser)

gnomAD frequency: 0.00084  dbSNP: rs140080678

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000723740	SCV000203775	uncertain significance	not provided	2014-04-25	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155329	SCV000205015	likely benign	not specified	2013-06-13	criteria provided, single submitter	clinical testing	Asn1683Ser in Exon 25 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (14/4392) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/ EVS/; dbSNP rs140080678) and computational analyses (PolyPhen2, SIFT, AlignGVGD) do not suggest a high likelihood of impact to the protein.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000723740	SCV001074525	benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000723740	SCV001778587	uncertain significance	not provided	2021-04-13	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc.	RCV001273050	SCV001455636	likely benign	Usher syndrome type 2A	2020-04-30	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004732716	SCV005345460	likely benign	USH2A-related disorder	2024-07-05	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).