ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.-112A>C (rs1555342240)

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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 RCV000585992 SCV000698225 uncertain significance not provided 2017-03-10 criteria provided, single submitter clinical testing Variant summary:The GJB2 c.-122A>C variant involves the alteration of a non-conserved nucleotide, resulting in a change in the 5UTR region. One in silico tool predicts a benign outcome for this variant. However, no studies implying effect of this change on transcription efficiency were published at the time of evaluation. The variant is absent from the large population dataset of gnomAD, and ExAC/ESP datasets do not have coverage of this position. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or clinical laboratories. Due to the absence of clinical information and lack of functional studies, the variant was classified as a variant of uncertain significance until additional information becomes available.

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