Submissions for variant NM_006005.3(WFS1):c.1554G>A (p.Met518Ile)

gnomAD frequency: 0.00202  dbSNP: rs138232538

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000945650	SCV000252487	likely benign	not provided	2020-08-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 11244483, 26435059)
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000200008	SCV000269956	benign	not specified	2015-05-28	criteria provided, single submitter	clinical testing	Met518Ile in Exon 08 of WFS1: This variant is not expected to have clinical sign ificance because it has been identified in 0.6% (63/10382) of African American c hromosomes by the Exome Aggregation Consortium(ExAC, http://exac.broadinstitute. org; dbSNP rs138232538).
Eurofins Ntd Llc (ga)	RCV000200008	SCV000341815	likely benign	not specified	2016-05-31	criteria provided, single submitter	clinical testing
Personalized Diabetes Medicine Program, University of Maryland School of Medicine	RCV000445413	SCV000537011	uncertain significance	Monogenic diabetes	2015-09-03	criteria provided, single submitter	research	ACMG Criteria: PP3, BS2 (type2diabetesgenetics.org)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000945650	SCV001091690	likely benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000945650	SCV001146649	likely benign	not provided	2019-02-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000945650	SCV001154164	uncertain significance	not provided	2019-05-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001157459	SCV001319034	uncertain significance	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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics	RCV002517274	SCV003694884	likely benign	Inborn genetic diseases	2021-06-09	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.