ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.2323-1G>T

gnomAD frequency: 0.00001  dbSNP: rs1278823424
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001223090 SCV001395223 likely pathogenic LAMA2-related muscular dystrophy 2022-02-21 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 951228). This variant has not been reported in the literature in individuals affected with LAMA2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.02%). This sequence change affects an acceptor splice site in intron 16 of the LAMA2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in LAMA2 are known to be pathogenic (PMID: 18700894, 32904964).
Baylor Genetics RCV003469386 SCV004190504 likely pathogenic Merosin deficient congenital muscular dystrophy 2023-05-17 criteria provided, single submitter clinical testing

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