ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.8244+3_8244+6del (rs746678525)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516540 SCV000613985 uncertain significance not specified 2016-10-31 criteria provided, single submitter clinical testing
Invitae RCV000528564 SCV000658780 pathogenic Laminin alpha 2-related dystrophy 2019-09-08 criteria provided, single submitter clinical testing This sequence change falls in intron 58 of the LAMA2 gene. It does not directly change the encoded amino acid sequence of the LAMA2 protein, but it affects nucleotides within the consensus splice site of the intron. This variant is present in population databases (rs746678525, ExAC 0.003%). This variant has been observed on the opposite chromosome (in trans) from other pathogenic variants in LAMA2 in individuals affected with congenital muscular dystrophy (PMID: 24611677, Invitae). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. ClinVar contains an entry for this variant (Variation ID: 447695). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.

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