ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2667G>A (p.Ala889=)

gnomAD frequency: 0.00015  dbSNP: rs71526454
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000152702 SCV000202084 likely benign not specified 2014-08-19 criteria provided, single submitter clinical testing Ala889Ala in exon 8 of WFS1: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and it is not located wi thin the splice consensus sequence. In addition, this variant has been identifi ed in 0.08% (1/1246) of European chromosomes in the ClinSeq project (rs71526454) .
GeneDx RCV000864405 SCV000515281 likely benign not provided 2021-01-25 criteria provided, single submitter clinical testing
Invitae RCV000864405 SCV001005201 likely benign not provided 2021-12-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000864405 SCV001249100 likely benign not provided 2019-09-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV001156288 SCV001317776 uncertain significance Autosomal dominant nonsyndromic hearing loss 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, 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.
Illumina Laboratory Services,Illumina RCV001157955 SCV001319564 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.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000864405 SCV002036810 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000864405 SCV002037618 likely benign not provided no assertion criteria provided clinical testing

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