ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1632C>T (p.Ser544=)

gnomAD frequency: 0.00020  dbSNP: rs140115060
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155343 SCV000205029 likely benign not specified 2017-07-20 criteria provided, single submitter clinical testing p.Ser544Ser in Exon 08 of WFS1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has also been identified in 35/126666 of European chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.b roadinstitute.org; dbSNP rs140115060).
CeGaT Center for Human Genetics Tuebingen RCV000487945 SCV000575395 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing WFS1: BP4, BP7
GeneDx RCV000487945 SCV000970693 likely benign not provided 2021-05-12 criteria provided, single submitter clinical testing
Invitae RCV000487945 SCV001047204 likely benign not provided 2023-11-28 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003126554 SCV003801386 benign 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 rs140115060 in Wolfram's syndrome yet.
PreventionGenetics, part of Exact Sciences RCV003975215 SCV004787449 likely benign WFS1-related condition 2019-03-13 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000487945 SCV002035836 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000487945 SCV002037638 likely benign not provided no assertion criteria provided clinical testing

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