ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.5234+1G>A (rs781376927)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516970 SCV000613971 pathogenic not provided 2016-03-30 criteria provided, single submitter clinical testing
Mendelics RCV000987774 SCV001137225 pathogenic Merosin deficient congenital muscular dystrophy 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001068964 SCV001234101 pathogenic Laminin alpha 2-related dystrophy 2019-07-24 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 36 of the LAMA2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs781376927, ExAC 0.009%). This variant has been observed in several individuals affected with autosomal recessive congenital muscular dystrophy (PMID: 18700894, 24534542). ClinVar contains an entry for this variant (Variation ID: 447687). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 18700894). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and 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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