ClinVar Miner

Submissions for variant NM_198129.3(LAMA3):c.4683+2T>G (rs765943112)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443726 SCV000516749 pathogenic not provided 2015-04-15 criteria provided, single submitter clinical testing The c.4683+2T>G variant in the LAMA3 gene has not been reported previously as a pathogenic variant nor as a benign polymorphism, to our knowledge. This splice site variant destroys the canonical splice donor site in intron 36 of the alternate transcript. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to anabnormal protein product if the message is used for protein translation. The c.4683+2T>G variant wasnot observed in approximately 6200 individuals of European and African American ancestry in the NHLBIExome Sequencing Project, indicating it is not a common benign variant in these populations. We interpretc.4683+2T>G as a pathogenic variant.

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