ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.5562+5G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001243340 SCV001416491 likely pathogenic Laminin alpha 2-related dystrophy 2019-10-09 criteria provided, single submitter clinical testing This sequence change falls in intron 38 of the LAMA2 gene. It does not directly change the encoded amino acid sequence of the LAMA2 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with congenital muscular dystrophy (PMID: 12552556). This variant is also known as IVS37+5G>A in the literature. 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: 12552556). This variant disrupts the c.5562+5 nucleotide in the LAMA2 gene. Other variant(s) that disrupt this nucleotide have been determined to be pathogenic (PMID: 10611118, 20207543, 12552556, 17576681, 9536098). This suggests that this nucleotide is clinically-significant, and that variants that disrupt this position are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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