ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.9212-1G>A (rs398123391)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000179649 SCV000231930 pathogenic not provided 2012-11-01 criteria provided, single submitter clinical testing
Invitae RCV001319032 SCV001509758 uncertain significance Laminin alpha 2-related dystrophy 2020-07-15 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in the last intron (intron 64) of the LAMA2 gene. While this is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with congenital muscular dystrophy (PMID: 30827497). ClinVar contains an entry for this variant (Variation ID: 92995). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 30827497). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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