ClinVar Miner

Submissions for variant NM_005562.3(LAMC2):c.1065C>G (p.Tyr355Ter) (rs118203899)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000015657 SCV000485995 likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz 2016-03-18 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000015657 SCV001362357 pathogenic Junctional epidermolysis bullosa gravis of Herlitz 2019-05-10 criteria provided, single submitter clinical testing Variant summary: LAMC2 c.1065C>G (p.Tyr355X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251430 control chromosomes (gnomAD). c.1065C>G has been reported in the literature in multiple homozygous individuals affected with Junctional Epidermolysis Bullosa from Italy (Baudoin_1994, Castori_2008). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. A ClinVar submission from a clinical diagnostic laboratory (evaluation after 2014) cites the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
OMIM RCV000015657 SCV000035922 pathogenic Junctional epidermolysis bullosa gravis of Herlitz 1994-10-01 no assertion criteria provided literature only

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