ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.-127G>C (rs727503068)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150736 SCV000198172 uncertain significance not specified 2014-07-16 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The -127G>C variant in GJB2 has previously been identified by our laboratory in two individuals wit h hearing loss. However, a second GJB2 variant was not found in either of them. This variant is located in the 5?untranslated region (5'UTR), and variants in th is region could have an effect on transcriptional or translational regulation. H owever, no pathogenic variants have been reported in the 5?UTR of GJB2. In summa ry, although the clinical significance of this variant cannot be determined with certainty at this time, we would lean towards a more likely benign role.

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