ClinVar Miner

Submissions for variant NM_005562.3(LAMC2):c.134_137del (p.Arg45fs)

dbSNP: rs1057516806
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412328 SCV000486252 likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz 2016-04-22 criteria provided, single submitter clinical testing
Invitae RCV001041657 SCV001205281 pathogenic not provided 2023-07-17 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 370838). This sequence change creates a premature translational stop signal (p.Arg45Lysfs*63) in the LAMC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LAMC2 are known to be pathogenic (PMID: 11907499, 16473856). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with LAMC2-related conditions.

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