ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.-12C>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV001293460 SCV001482029 uncertain significance not specified 2021-02-19 criteria provided, single submitter clinical testing Variant summary: GJB2 c.-12C>T is located in exon 2 in the untranslated mRNA region upstream of the initiation codon. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 249000 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.-12C>T has been reported in the literature in 2 alleles from a large cohort of individuals affected with hearing loss, however without providing supporting evidence for causality (Putcha_2007). This report does not provide unequivocal conclusions 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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