ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.463G>T (p.Glu155Ter) (rs756045943)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000778774 SCV000915143 uncertain significance Congenital muscular dystrophy due to partial LAMA2 deficiency 2018-09-25 criteria provided, single submitter clinical testing The LAMA2 c.463G>T (p.Glu155Ter) variant is a stop-gained variant that is predicted to result in a premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is reported at a frequency of 0.000116 in the East Asian population from the Exome Aggregation Consortium, however, this is based on one allele in a region of good sequencing coverage so the variant is presumed to be rare. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of stop-gained variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for LAMA2-related congenital muscular dystrophy. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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