ClinVar Miner

Submissions for variant NM_133642.5(LARGE1):c.1132-3C>G

gnomAD frequency: 0.00002  dbSNP: rs755662032
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000695176 SCV000823659 uncertain significance Muscular dystrophy-dystroglycanopathy type B6 2021-08-27 criteria provided, single submitter clinical testing This sequence change falls in intron 10 of the LARGE1 gene. It does not directly change the encoded amino acid sequence of the LARGE1 protein. It affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs755662032, ExAC 0.009%). This variant has not been reported in the literature in individuals affected with LARGE1-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 may disrupt the consensus splice site. 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.

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