ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.50C>G (p.Ser17Cys)

dbSNP: rs28929485
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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, Mass General Brigham Personalized Medicine RCV000156624 SCV000206345 uncertain significance not specified 2014-06-30 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The Ser17Cys va riant in GJB2 has not been previously reported in individuals with hearing loss and was absent from large population studies. Two different amino acid changes h ave been reported at this position, Ser17Phe and Ser17Tyr; the Ser17Phe variant has been associated with autosomal dominant Keratitis-Ichthyosis-Deafness syndro me (Mazereeuw-Hautier 2007, Richard 2002, Kim 2008, Lee 2009, Mazereeuw-Hautier 2014, Schutz 2011) and the Ser17Tyr variant was reported in one individual with nonsyndromic hearing loss who also carried a second pathogenic variant in the GJ B2 gene (Toth 2004). These findings suggest that changes at this position may no t be tolerated. Computational prediction tools and conservation analyses suggest that the Ser17Cys variant may impact the protein, though this information is no t predictive enough to determine pathogenicity. In summary, while there is some suspicion for a pathogenic role, the clinical significance of this variant is un certain.

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