ClinVar Miner

Submissions for variant NM_005562.3(LAMC2):c.1711C>T (p.Arg571Ter)

gnomAD frequency: 0.00001  dbSNP: rs761388039
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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 RCV001044032 SCV001207806 pathogenic not provided 2023-01-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Arg571*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with LAMC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 841746).
Institute of Human Genetics, University of Ulm RCV003148920 SCV003834793 likely pathogenic Epidermolysis bullosa, junctional 3A, intermediate 2022-06-15 no assertion criteria provided research

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