ClinVar Miner

Submissions for variant NM_000228.3(LAMB3):c.1830G>A (p.Trp610Ter)

dbSNP: rs121912484
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000015646 SCV000794195 pathogenic Junctional epidermolysis bullosa gravis of Herlitz 2017-09-19 criteria provided, single submitter clinical testing
Invitae RCV003556026 SCV004292365 pathogenic not provided 2024-01-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp610*) 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: 9457915). ClinVar contains an entry for this variant (Variation ID: 14545). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000015646 SCV000035911 pathogenic Junctional epidermolysis bullosa gravis of Herlitz 1998-02-01 no assertion criteria provided literature only

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