ClinVar Miner

Submissions for variant NM_000228.3(LAMB3):c.3190_3191delinsTA (p.Ala1064Ter)

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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 RCV003554882 SCV004292363 pathogenic not provided 2023-04-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala1064*) in the LAMB3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LAMB3 are known to be pathogenic (PMID: 11023379, 16473856). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This premature translational stop signal has been observed in individual(s) with junctional epidermolysis bullosa (PMID: 11810295). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005014764 SCV005645556 pathogenic Amelogenesis imperfecta type 1A; Junctional epidermolysis bullosa gravis of Herlitz; Junctional epidermolysis bullosa, non-Herlitz type 2024-04-08 criteria provided, single submitter clinical testing

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