ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.564_565del (p.Lys188fs) (rs770116143)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409267 SCV000487446 likely pathogenic Deafness, autosomal recessive 1A 2016-09-09 criteria provided, single submitter clinical testing
Counsyl RCV000410369 SCV000487447 likely pathogenic Deafness, autosomal dominant 3a 2016-09-09 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000602023 SCV000712531 pathogenic Rare genetic deafness 2016-10-25 criteria provided, single submitter clinical testing The p.Lys188fs variant in GJB2 has been reported in 1 individual with hearing lo ss (Azaiez 2004). This variant has been identified in 2/10270 African chromosome s by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbS NP rs770116143); however, this frequency is low enough to be consistent with a r ecessive carrier frequency. This variant is predicted to cause a frameshift, whi ch alters the protein?s amino acid sequence beginning at position 188 and leads to a premature termination codon 21 amino acids downstream. In summary, this var iant is pathogenic for autosomal recessive hearing loss based on its predicted i mpact on the protein.

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