ClinVar Miner

Submissions for variant NM_198129.3(LAMA3):c.6567del (p.Glu2190fs) (rs1555732939)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672802 SCV000797946 likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz 2018-02-15 criteria provided, single submitter clinical testing
Invitae RCV000805694 SCV000945660 pathogenic not provided 2018-11-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu581Argfs*18) in the LAMA3 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with LAMA3-related disease. ClinVar contains an entry for this variant (Variation ID: 556752). Loss-of-function variants in LAMA3 are known to be pathogenic (PMID: 10366601, 11810295, 12915477, 16473856, 17362460, 23869449, 28087116). For these reasons, this variant has been classified as Pathogenic.

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