ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) (rs35031397)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000155411 SCV000169819 benign not specified 2014-03-28 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 RCV000155411 SCV000205098 benign not specified 2014-09-26 criteria provided, single submitter clinical testing Leu432Val in exon 08 of WFS1: This variant is not expected to have clinical sign ificance because it has been identified in 0.5% (43/8600) of European American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs35031397).
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000155411 SCV000297197 likely benign not specified 2015-11-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000351887 SCV000450607 likely benign WFS1-Related Spectrum Disorders 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000415767 SCV000493152 likely benign not provided 2019-02-01 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000445544 SCV000537010 uncertain significance Monogenic diabetes 2016-07-22 criteria provided, single submitter research ACMG Criteria:PP3, BP6 (ClinVar with 2 submitters calling this variant benign/Partners and GeneDx) Notes: no statistical difference between [deafness and DM] and 49 controls with this variant in Domenech et al 2002 EJHG (PMID:12107816).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000155411 SCV000705650 benign not specified 2017-03-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282748 SCV000884909 benign none provided 2019-11-26 criteria provided, single submitter clinical testing
Invitae RCV000415767 SCV001013096 likely benign not provided 2020-11-27 criteria provided, single submitter clinical testing
Mendelics RCV000987408 SCV001136697 likely benign Wolfram syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001157342 SCV001318904 benign Autosomal dominant nonsyndromic deafness 6 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics Inc RCV000155411 SCV001477209 benign not specified 2019-12-06 criteria provided, single submitter clinical testing

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