ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.78C>T (p.Thr26=) (rs201848820)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000219836 SCV000270219 likely benign not specified 2015-08-06 criteria provided, single submitter clinical testing p.Thr26Thr in exon 2 of GJB2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 12/66708 African chr omosomes and 3/11578 Latino chromosomes by the Exome Aggregation Consortium (ExA C, http://exac.broadinstitute.org; dbSNP rs201848820).
Integrated Genetics/Laboratory Corporation of America RCV000219836 SCV000917435 likely benign not specified 2017-10-18 criteria provided, single submitter clinical testing Variant summary: The GJB2 c.78C>T (p.Thr26Thr) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 44/282948 control chromosomes, predominantly observed in the Ashkenazi Jewish subpopulation at a frequency of 0.00197 (20/10150). This frequency is about 6 times the estimated maximal expected allele frequency of a pathogenic GJB2 variant (0.0003376), suggesting this is likely a benign polymorphism found primarily in the populations of Ashkenazi Jewish origin. This variant has been reported heterozygously in multiple affected individuals without strong evidence for causality. In addition, one other clinical diagnostic laboratory classified this variant as likely benign. Taken together, this variant is classified as likely benign.

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