ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.819+2T>C (rs1554226188)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551647 SCV000658776 likely pathogenic Laminin alpha 2-related dystrophy 2017-05-08 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 5 of the LAMA2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with a LAMA2-related disease. In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in LAMA2 are known to be pathogenic (PMID: 18700894). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.

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