ClinVar Miner

Submissions for variant NM_005562.3(LAMC2):c.3357del (p.Leu1120fs)

dbSNP: rs1057516473
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409003 SCV000485737 likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz 2016-02-05 criteria provided, single submitter clinical testing
Invitae RCV003558358 SCV004293854 pathogenic not provided 2023-03-04 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. ClinVar contains an entry for this variant (Variation ID: 370421). This variant is also known as 3356delG. This premature translational stop signal has been observed in individual(s) with junctional epidermolysis bullosa (PMID: 16473856). This sequence change creates a premature translational stop signal (p.Leu1120Trpfs*22) in the LAMC2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 74 amino acid(s) of the LAMC2 protein.

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