ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.4436_4436+35del

dbSNP: rs1776322102
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001223789 SCV001395953 likely pathogenic LAMA2-related muscular dystrophy 2019-04-30 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. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in LAMA2 are known to be pathogenic (PMID: 18700894). This variant has not been reported in the literature in individuals with LAMA2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 30 of the LAMA2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant also falls at the last nucleotide of exon 30 of the LAMA2 coding sequence, which is part of the consensus splice site for this exon.

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