ClinVar Miner

Submissions for variant NM_000228.3(LAMB3):c.3163del (p.Ala1055fs)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003734562 SCV004540313 pathogenic not provided 2023-10-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala1055Glnfs*18) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with junctional epidermolysis bullosa (PMID: 29364557). This variant is also known as c.3163delG (p.Ala1055Glnfs*17) . For these reasons, this variant has been classified as Pathogenic.
Palindrome, Gene Kavoshgaran Aria RCV004775486 SCV005382612 pathogenic Junctional epidermolysis bullosa gravis of Herlitz 2024-09-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005014930 SCV005645567 likely pathogenic Amelogenesis imperfecta type 1A; Junctional epidermolysis bullosa gravis of Herlitz; Junctional epidermolysis bullosa, non-Herlitz type 2024-05-15 criteria provided, single submitter clinical testing

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