ClinVar Miner

Submissions for variant NM_005562.3(LAMC2):c.3328+1G>A

dbSNP: rs1475860578
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000722775 SCV002986345 pathogenic not provided 2022-05-05 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the LAMC2 protein in which other variant(s) (p.Thr1132Asnfs*38) have been determined to be pathogenic (PMID: 11564184). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. 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. ClinVar contains an entry for this variant (Variation ID: 591594). This variant has not been reported in the literature in individuals affected with LAMC2-related conditions. This sequence change affects a donor splice site in intron 22 of the LAMC2 gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product.
Gharavi Laboratory, Columbia University RCV000722775 SCV000853906 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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