Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003317818 | SCV004020862 | likely pathogenic | Lethal congenital contracture syndrome 2 | 2023-06-20 | criteria provided, single submitter | clinical testing | Variant summary: ERBB3 c.2938-3_2938-2delTA is located close to a canonical splice-site and could affect splicing, however, computational tools were not able to predict the impact of the variant on normal splicing (although one predicts the variant weakens the 3' acceptor site). The variant allele was found at a frequency of 0.00019 in 251314 control chromosomes, predominantly at a frequency of 0.0012 within the Latino subpopulation in the gnomAD database (v2.1 dataset). To our knowledge, no occurrence of c.2938-3_2938-2delTA in individuals affected with Lethal congenital contracture syndrome 2 and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely benign. |