ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2380G>A (p.Glu794Lys)

gnomAD frequency: 0.00001  dbSNP: rs201078003
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724671 SCV000232697 uncertain significance not provided 2015-03-16 criteria provided, single submitter clinical testing
GeneDx RCV000724671 SCV000252502 likely benign not provided 2020-12-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32350710)
Invitae RCV000724671 SCV001708984 likely benign not provided 2023-12-07 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003148665 SCV003804420 likely pathogenic Wolfram syndrome 1 criteria provided, single submitter research Potent mutations in WFS1 gene are associated with Wolfram's syndrome, an autosomal recessive condition, which cause diabetes mellitus, diabetes insipidus, deafness and optic atrophy. However no sufficient evidence is found to ascertain the role of this particular variant rs201078003 in Wolfram's syndrome yet.
Revvity Omics, Revvity RCV000724671 SCV003823769 uncertain significance not provided 2022-02-04 criteria provided, single submitter clinical testing

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