ClinVar Miner

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

gnomAD frequency: 0.00182  dbSNP: rs138232538
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Total submissions: 8
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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)
Invitae RCV000945650 SCV001091690 likely benign not provided 2021-11-06 criteria provided, single submitter clinical testing
Athena Diagnostics Inc 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.

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