ClinVar Miner

Submissions for variant NM_000228.3(LAMB3):c.435_436del (p.Tyr146fs)

dbSNP: rs1666824858
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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 RCV001865120 SCV002124841 pathogenic not provided 2021-05-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr146Profs*35) 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 (ExAC no frequency). This variant has not been reported in the literature in individuals with LAMB3-related conditions. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005006111 SCV005643024 likely pathogenic Amelogenesis imperfecta type 1A; Junctional epidermolysis bullosa gravis of Herlitz; Junctional epidermolysis bullosa, non-Herlitz type 2024-06-03 criteria provided, single submitter clinical testing

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