ClinVar Miner

Submissions for variant NM_000228.3(LAMB3):c.1029_1030dup (p.Asp344fs)

dbSNP: rs1057517290
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410525 SCV000487052 likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz 2016-10-03 criteria provided, single submitter clinical testing
Invitae RCV003574767 SCV004338005 pathogenic not provided 2023-10-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp344Valfs*53) 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 variant has not been reported in the literature in individuals affected with LAMB3-related conditions. ClinVar contains an entry for this variant (Variation ID: 371462). For these reasons, this variant has been classified as Pathogenic.

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