Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001174935 | SCV001338385 | uncertain significance | not specified | 2020-02-24 | criteria provided, single submitter | clinical testing | Variant summary: GJB2 c.111_113delTGT (p.Val38del) results in an in-frame deletion that is predicted to remove Valine from the encoded protein. The variant was absent in 250894 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.111_113delTGT in individuals affected with Non-Syndromic Hearing Loss and no experimental evidence demonstrating its impact on protein function have 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. |