Submissions for variant NM_206933.4(USH2A):c.1179A>G (p.Gln393=)

gnomAD frequency: 0.00118  dbSNP: rs148447919

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041704	SCV000065400	likely benign	not specified	2016-02-25	criteria provided, single submitter	clinical testing	p.Gln393Gln in exon 7 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.2% (102/58878) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs148447919).
Illumina Laboratory Services, Illumina	RCV000308355	SCV000354172	uncertain significance	Usher syndrome type 2A	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina	RCV000360778	SCV000354173	uncertain significance	Retinitis pigmentosa	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx	RCV000890954	SCV000729461	likely benign	not provided	2021-11-02	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 22004887)
Eurofins Ntd Llc (ga)	RCV000041704	SCV000857880	likely benign	not specified	2018-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000890954	SCV001034738	likely benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000890954	SCV004125629	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	USH2A: BP4, BP7
Clinical Genetics, Academic Medical Center	RCV000890954	SCV001918213	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000890954	SCV001955598	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000890954	SCV001963745	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000308355	SCV002093999	likely benign	Usher syndrome type 2A	2020-10-05	no assertion criteria provided	clinical testing