ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1235T>C (p.Val412Ala) (rs144951440)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490282 SCV000267558 uncertain significance Autosomal dominant nonsyndromic deafness 6 2016-03-18 criteria provided, single submitter reference population
Illumina Clinical Services Laboratory,Illumina RCV000490282 SCV000450603 likely benign Autosomal dominant nonsyndromic deafness 6 2017-04-28 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 RCV000345927 SCV000450604 likely benign WFS1-Related Spectrum Disorders 2017-04-28 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000825691 SCV000967129 benign not specified 2018-09-06 criteria provided, single submitter clinical testing The p.Val412Ala variant in WFS1 has been reported in several studies in associat ion with hearing loss, diabetes, and goiter (Fukouka 2007, Yan 2013, Awata 2013, Choi 2013, Li 2016) but has also been identified in 0.92% (173/18864) of East A sian chromosomes, including 1 homozygote, by the Genome Aggregation Database (ht tp://gnomad.broadinstitute.org). Therefore, this variant is classified as benign for hearing loss. ACMG/AMP criteria applied: PP3, BA1.
Invitae RCV000953870 SCV001100466 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000987407 SCV001136696 uncertain significance Wolfram syndrome 1 2019-05-28 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.