ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.587T>C (p.Ile196Thr) (rs765172751)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516988 SCV000613519 uncertain significance not specified 2016-10-06 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000516988 SCV001361879 uncertain significance not specified 2019-11-22 criteria provided, single submitter clinical testing Variant summary: GJB2 c.587T>C (p.Ile196Thr) results in a non-conservative amino acid change located in the Gap junction protein, cysteine-rich domain (IPR019570) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.2e-05 in 251346 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.587T>C has been reported in the literature in one individual affected with Non-Syndromic Hearing Loss (Felix_2019) and a newborn screening (Qingjia_2015). These reports do not provide an unequivocal conclusion about association of the variant with Non-Syndromic Hearing Loss. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. A ClinVar submission (evaluation after 2014) cites the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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