ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.24G>A (p.Thr8=) (rs533231493)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Deafness research group, Biosystems & Integrative Sciences Institute,University of Lisbon RCV000172829 SCV000223794 uncertain significance Deafness, autosomal recessive 1A 2012-12-12 criteria provided, single submitter clinical testing
Counsyl RCV000172829 SCV000793800 uncertain significance Deafness, autosomal recessive 1A 2017-11-14 criteria provided, single submitter clinical testing
Invitae RCV000909190 SCV001053985 likely benign not provided 2020-10-26 criteria provided, single submitter clinical testing
INGEBI, INGEBI / CONICET RCV001257045 SCV001433596 uncertain significance 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.24G>A, p.(Thr8=) variant in GJB2 gene is 0,0056% (5/34592 Latino 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 criteria to apply to PM2 criteria. This variant has been identified twice in heterozygous state (PMID: 23668481, 24158611). A potential alteration of splicing was predicted by Human Splicing Finder system and Mutation Tester software applying to PP3 rule. In summary, the clinical significance of this variant is currently uncertain (PM2, PP3).
GeneDx RCV000909190 SCV001865016 likely benign not provided 2020-02-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 33096615, 23668481, 24158611, 30245029)

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