ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.*1C>T (rs111033327)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037802 SCV000061464 likely benign not specified 2011-06-03 criteria provided, single submitter clinical testing The *1C>T variant was identified in the 3?UTR of GJB2. This variant is located 1 base after the termination codon. Although, this variant has been detected in i ndividuals with hearing loss, it has never been identified with a second pathoge nic GJB2 variant (Frei 2005, Samanich 2007, Tang 2006, Rabionet unpublished). In addition, it was identified at an equal frequency (0.5%) in control chromosomes (Samanich 2007). In summary, the *1C>T variant is not expected to have clinical or pathological significance because it is not predicted to affect the transcri pt and has been found at an equal frequency in controls.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000586188 SCV000112256 uncertain significance not provided 2014-10-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000037802 SCV000193152 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000674792 SCV000382987 likely benign Deafness, autosomal recessive 1A 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 RCV000296648 SCV000382988 likely benign Hystrix-like ichthyosis with deafness 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.
Illumina Clinical Services Laboratory,Illumina RCV000344717 SCV000382989 likely benign Deafness, autosomal dominant 3a 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.
Integrated Genetics/Laboratory Corporation of America RCV000586188 SCV000698222 benign not provided 2016-05-31 criteria provided, single submitter clinical testing
Counsyl RCV000674792 SCV000800190 uncertain significance Deafness, autosomal recessive 1A 2018-05-24 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000037802 SCV001157394 likely benign not specified 2018-12-24 criteria provided, single submitter clinical testing
INGEBI, INGEBI / CONICET RCV001257161 SCV001433679 likely benign Nonsyndromic hearing loss and deafness 2020-08-31 criteria provided, single submitter clinical testing Based on ACMG/AMP guidelines and Hearing Loss Expert Panel specific criteria: the filtering allele frequency of the c.*1C>T variant in GJB2 gene is 0,16% in latino population (72/35366 alleles with 95%CI) from Genome Aggregation Database (http://gnomad.broadinstitute.org; calculated by using inverse allele frequency at https://www.cardiodb.org/allelefrequencyapp/), which meets the BS1_Supporting rule. Bening computational veredict prediction from DANN and CADD predictors applying for BP4 rule. In summary, the c.*1C>T variant meets criteria to be classified likely benign (BS1_Supporting, BP4)

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