ClinVar Miner

Submissions for variant NM_016938.5(EFEMP2):c.-7-1_-7delinsAT

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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.

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