ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2039A>C (p.Glu680Ala) (rs144840779)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725856 SCV000339960 uncertain significance not provided 2018-09-07 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000354766 SCV000711254 uncertain significance not specified 2017-12-21 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Glu680Ala var iant in WFS1 has not been previously reported in individuals with hearing loss, but has been identified in 0.21% (51/24020) of African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs1448407 79). Although this variant has been seen in the general population, its frequenc y is not high enough to rule out a pathogenic role. Computational prediction too ls and conservation analysis suggest that the p.Glu680Ala variant may not impact the protein, though this information is not predictive enough to rule out patho genicity. In summary, while the clinical significance of the p.Glu680Ala variant is uncertain, available data suggest that it is more likely to be benign. ACMG/ AMP Criteria applied: BP4.
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000664092 SCV000787544 uncertain significance Monogenic diabetes 2017-06-26 criteria provided, single submitter research ACMG Criteria:PP3 (9 predictors) NOTE: Emory calls VUS in ClinVar 4/2016
Invitae RCV000725856 SCV001092077 likely benign not provided 2018-09-19 criteria provided, single submitter clinical testing

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