ClinVar Miner

Submissions for variant NM_005562.3(LAMC2):c.1067-1G>A (rs1558092501)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000015655 SCV001362358 pathogenic Junctional epidermolysis bullosa gravis of Herlitz 2019-11-11 criteria provided, single submitter clinical testing Variant summary: LAMC2 c.1067-1G>A (also known as 1184-1G>A) 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. Several computational tools predict a significant impact on normal splicing: five predict the variant abolishes a 3' acceptor site. A functional study performed on patient derived fibroblasts found that the variant results in an in-frame skipping of exon 9 (Pulkkinen_1994). The variant was absent in 251466 control chromosomes (gnomAD). c.1067-1G>A has been reported in the literature in a homozygous individual affected with Junctional Epidermolysis Bullosa (Pulkkinen_1994). These data indicate that the variant may be associated with disease. 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 pathogenic.
OMIM RCV000015655 SCV000035920 pathogenic Junctional epidermolysis bullosa gravis of Herlitz 1994-03-01 no assertion criteria provided literature only

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