ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.325C>T (p.His109Tyr) (rs112871383)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152664 SCV000202020 uncertain significance not specified 2013-10-17 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The His109Tyr varia nt in WFS1 has not been reported in individuals with hearing loss, but has been identified in 1.0% (2/192) Luhya West African chromosomes by the 1000 Genomes Pr oject and in 0.04% (2/4402) of African American chromosomes by the NHLBI Exome S equencing Project (; dbSNP rs112871383). Compu tational analyses (biochemical amino acid properties, conservation, AlignGVGD, P olyPhen2, and SIFT) suggest that the His109Tyr variant may not impact the protei n, though this information is not predictive enough to rule out pathogenicity. I n summary, the clinical significance of this variant cannot be determined with c ertainty; however based upon its presence in the general population and the comp utational data, we would lean towards a more likely benign role.
GeneDx RCV000152664 SCV000521494 likely benign not specified 2015-12-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727284 SCV000707224 uncertain significance not provided 2017-04-17 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000664085 SCV000787537 uncertain significance Monogenic diabetes 2017-06-01 criteria provided, single submitter research ACMG Criteria:PP3 (6 predictors), BP4 (3 predictors)
CeGaT Praxis fuer Humangenetik Tuebingen RCV000727284 SCV001154157 uncertain significance not provided 2019-05-01 criteria provided, single submitter clinical testing
Invitae RCV000727284 SCV001706142 likely benign not provided 2020-11-30 criteria provided, single submitter clinical testing

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