ClinVar Miner

Submissions for variant NM_000228.3(LAMB3):c.3024del (p.Arg1009fs)

dbSNP: rs777292177
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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 RCV001385671 SCV001585615 pathogenic not provided 2020-03-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Arg1009Glyfs*21) in the LAMB3 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs777292177, ExAC 0.03%). This variant has been observed in individual(s) with epidermolysis bullosa (PMID: 11023379). ClinVar contains an entry for this variant (Variation ID: 370321). Loss-of-function variants in LAMB3 are known to be pathogenic (PMID: 11023379, 16473856).
Counsyl RCV000410326 SCV000485592 likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz 2016-01-15 no assertion criteria provided clinical testing This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com.

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