ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.31_68del (p.Gly11fs) (rs397516873)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037837 SCV000061499 pathogenic Rare genetic deafness 2012-04-17 criteria provided, single submitter clinical testing The Gly11fs variant in GJB2 has been reported in one individual with hearing los s (Denoyelle 1997). This frameshift variant is predicted to alter the protein?s amino acid sequence beginning at position 11 and lead to a premature termination codon 24 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. In summary, this variant meets our criteria to be classified as pathogenic (http://pcpgm.partners.org/LMM).
Counsyl RCV000411009 SCV000487542 likely pathogenic Deafness, autosomal dominant 3a 2016-03-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000517627 SCV000613511 pathogenic not provided 2017-03-07 criteria provided, single submitter clinical testing
Counsyl RCV000409896 SCV000487541 likely pathogenic Deafness, autosomal recessive 1A 2016-03-14 no assertion criteria provided clinical testing

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