Submissions for variant NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys)

gnomAD frequency: 0.00018  dbSNP: rs147834269

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155350	SCV000205036	benign	not specified	2014-09-12	criteria provided, single submitter	clinical testing	Glu737Lys in exon 8 of WFS1: This variant is not expected to have clinical signi ficance because it has been identified in 4/8568 of European American chromosome s by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSN P rs147834269) and in 6.7% (12/178) of Japanese chromosomes by the 1000 Genomes Project (dbSNP rs147834269). It is reported as a benign variant in 3 publication s (Ohtsuki 2000, Gomez-Zaera 2001, Baek 2012).
GeneDx	RCV000132656	SCV000252498	benign	not provided	2021-03-08	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 22938506, 11161832, 10760554, 29728875, 29529044, 30872718, 16408729, 11317350, 27212798, 30245029, 31264968)
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	RCV000490497	SCV000267560	uncertain significance	Wolfram syndrome 1	2016-03-18	criteria provided, single submitter	reference population
Illumina Laboratory Services, Illumina	RCV000264975	SCV000450660	likely benign	Autosomal dominant nonsyndromic hearing loss 6	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000324875	SCV000450661	likely benign	WFS1-Related Spectrum Disorders	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae	RCV000132656	SCV001019608	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Mendelics	RCV000490497	SCV001136702	benign	Wolfram syndrome 1	2019-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000132656	SCV001154169	uncertain significance	not provided	2016-09-01	criteria provided, single submitter	clinical testing
Department of Ophthalmology and Visual Sciences Kyoto University	RCV000132656	SCV000172607	probable-non-pathogenic	not provided		no assertion criteria provided	not provided	Converted during submission to Likely benign.