ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1153G>A (p.Glu385Lys) (rs71524353)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155339 SCV000205025 likely benign not specified 2015-02-04 criteria provided, single submitter clinical testing p.Glu385Lys in exon 8 of WFS1: This variant is not expected to have clinical sig nificance because it has been identified in 0.4% (24/6748) of European (Finnish ) chromosomes and 0.2% (113/67706) of European (non-Finnish) chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs7152 4353). Although this variant been reported in the heterozygous state in 3 indivi duals with hearing loss and 1 individual with optic atrophy, the variant did not segregate with hearing loss in 1 affected sibling (Kytovuori 2013, Hakli 2014). Moreover, the p.Glu385Lys variant has been identified by our laboratory in 3 in dividuals with hearing loss, but two individuals had an alternate genetic explan ation for their hearing loss.
Genetic Services Laboratory, University of Chicago RCV000155339 SCV000249459 uncertain significance not specified 2014-05-28 criteria provided, single submitter clinical testing
GeneDx RCV000155339 SCV000252523 likely benign not specified 2018-01-15 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.
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000445390 SCV000537008 likely benign Monogenic diabetes 2016-02-03 criteria provided, single submitter research ACMG Criteria: PP3, BS2 (type2diabetesgenetics.org), BP4
Invitae RCV000870736 SCV001012271 likely benign not provided 2020-11-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001153038 SCV001314284 likely benign Autosomal dominant nonsyndromic deafness 6 2018-01-13 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.
Illumina Clinical Services Laboratory,Illumina RCV001153039 SCV001314285 uncertain significance WFS1-Related Spectrum Disorders 2018-01-13 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.

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