ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.939_940del (p.Cys314fs) (rs1209130981)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624581 SCV000742966 pathogenic Inborn genetic diseases 2017-09-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Invitae RCV000554369 SCV000658805 pathogenic Laminin alpha 2-related dystrophy 2016-11-26 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides in exon 7 of the LAMA2 mRNA (c.939_940delAT), causing a frameshift at codon 314. This creates a premature translational stop signal (p.Cys314Trpfs*3) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in LAMA2 are known to be pathogenic (PMID: 18700894). For these reasons, this variant has been classified as Pathogenic.

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