ClinVar Miner

Submissions for variant NM_005562.3(LAMC2):c.80-2A>G

gnomAD frequency: 0.00002  dbSNP: rs771613805
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412415 SCV000486690 likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz 2016-07-19 criteria provided, single submitter clinical testing
Invitae RCV001051370 SCV001215521 likely pathogenic not provided 2023-01-22 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: 371173). This variant has not been reported in the literature in individuals affected with LAMC2-related conditions. This variant is present in population databases (rs771613805, gnomAD 0.004%). This sequence change affects an acceptor splice site in intron 1 of the LAMC2 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 LAMC2 are known to be pathogenic (PMID: 11907499, 16473856).
PreventionGenetics, part of Exact Sciences RCV003897828 SCV004715623 likely pathogenic LAMC2-related condition 2024-01-18 criteria provided, single submitter clinical testing The LAMC2 c.80-2A>G variant is predicted to disrupt the AG splice acceptor site and interfere with normal splicing. To our knowledge this variant has not been reported in the literature to date. This variant is reported in 0.0036% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Variants that disrupt the consensus splice acceptor site in LAMC2 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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