ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.1027+3A>G

gnomAD frequency: 0.00001  dbSNP: rs772796883
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001061757 SCV001226512 pathogenic LAMA2-related muscular dystrophy 2023-10-20 criteria provided, single submitter clinical testing This sequence change falls in intron 7 of the LAMA2 gene. It does not directly change the encoded amino acid sequence of the LAMA2 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs772796883, gnomAD 0.0009%). This variant has been observed in individual(s) with clinical features of LAMA2-related conditions and/or congenital muscular dystrophy (PMID: 25663498; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 856319). Variants that disrupt 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. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV002225789 SCV002504274 likely benign not provided 2018-12-20 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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