ClinVar Miner

Submissions for variant NM_198129.3(LAMA3):c.7459A>T (p.Met2487Leu) (rs1085308017)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000675053 SCV000800499 uncertain significance Junctional epidermolysis bullosa gravis of Herlitz 2017-02-27 criteria provided, single submitter clinical testing
GeneDx RCV000489231 SCV000577834 likely pathogenic not provided 2015-04-14 criteria provided, single submitter clinical testing The p.M878L variant in the LAMA3 gene has been published as a JEB pathogenic variant, however the reported study is of this same individual reported by another laboratory.(Varki et al 2007) The p.M878L variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The p.M878L variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. The p.M878L variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across class. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. No nearby missense variants in nearby residues have been reported in the Human Gene Mutation Database. The p.M878L variant is a strong candidate for a disease-causing variant, however the possibility it may be a rare benign variant cannot be excluded.

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