Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003226820 | SCV003923106 | likely pathogenic | Cutis laxa, autosomal recessive, type 1B | 2023-03-22 | criteria provided, single submitter | clinical testing | Variant summary: EFEMP2 c.-7-1_-7delinsAT is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Specifically, the variant affects the canonical 3'-acceptor splice-site of exon 2, which contains the initiation codon. The next in-frame methionine is located at codon 69, within exon 4. The variant was absent in 150988 control chromosomes (gnomAD, v3). To our knowledge, no occurrence of c.-7-1_-7delinsAT in individuals affected with Autosomal Recessive Cutis Laxa 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 likely pathogenic. |