ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.7452-3T>C

dbSNP: rs1179386258
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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 RCV001050925 SCV001215054 uncertain significance LAMA2-related muscular dystrophy 2021-09-07 criteria provided, single submitter clinical testing This sequence change falls in intron 53 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 of the intron. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with LAMA2-related conditions. 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 is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity RCV003132177 SCV003816327 uncertain significance not provided 2019-10-18 criteria provided, single submitter clinical testing

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