ClinVar Miner

Submissions for variant NM_001079823.2(LAMA2):c.4959+1del (rs1583591577)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000850230 SCV000965689 pathogenic Merosin deficient congenital muscular dystrophy; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 2019-06-24 criteria provided, single submitter clinical testing A heterozygous variant c.4959+1del has been observed in the LAMA2 gene. The proband, born of a consanguineous marriage, presented with clinical indications of large eyes, weakness of all four limbs (proximal>distal), hypotonia, hyperextensible right elbow, contractures of the ankle, knees and left elbow and chronic thrombocytopenia. Her brain MRI showed hyperintense signal changes. The patient in our clinical analysis was observed with the said variant in an autosomal recessive mode of inheritance. The variant has not been reported in the 1000 genomes database and in the ExAC databases. The in-silico prediction of the variant is damaging by MutationTaster2. In summary, the said variant meets our criteria to be classified as likely pathogenic based on the mode of inheritance, in silico prediction.

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