ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr) (rs55814513)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000150097 SCV000113263 benign not specified 2013-11-20 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000150097 SCV000153525 likely benign not specified 2018-08-06 criteria provided, single submitter clinical testing
GeneDx RCV000150097 SCV000169822 benign not specified 2014-04-14 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150097 SCV000202046 benign not specified 2016-06-09 criteria provided, single submitter clinical testing p.Ala559Thr in Exon 08 of WFS1: This variant is not expected to have clinical si gnificance because it has been identified in 0.6% (416/66596) European chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; r s55814513).
Illumina Clinical Services Laboratory,Illumina RCV000281797 SCV000450626 likely benign 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000336857 SCV000450627 likely benign Autosomal dominant nonsyndromic deafness 6 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283130 SCV000605613 benign none provided 2019-11-18 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000081339 SCV000609133 likely benign not provided 2019-11-01 criteria provided, single submitter clinical testing
Invitae RCV000081339 SCV001005235 benign not provided 2020-11-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000081339 SCV001146650 likely benign not provided 2018-11-27 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV001174423 SCV001337561 benign Monogenic diabetes 2019-01-11 criteria provided, single submitter research ACMG criteria: BS2 (71 cases and 81 controls in type2diabetesgenetics.org) + BS1 (0.6 MAF in gnomAD European and ENF) = benign (REVEL 0.407 + PP3/3 predictors + BP4/6 predictors = conflicting evidence, not using)

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