ClinVar Miner

Submissions for variant NM_005562.3(LAMC2):c.1659C>A (p.Cys553Ter)

dbSNP: rs118203900
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000794274 SCV000933670 pathogenic not provided 2018-09-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in LAMC2 are known to be pathogenic (PMID: 11907499, 16473856). This variant has been observed to be homozygous in an individual affected with junctional epidermolysis bullosa (PMID: 10951251). ClinVar contains an entry for this variant (Variation ID: 14557). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Cys553*) in the LAMC2 gene. It is expected to result in an absent or disrupted protein product.
OMIM RCV002051624 SCV000035923 pathogenic Epidermolysis bullosa, junctional 3B, severe 2000-08-01 no assertion criteria provided literature only

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