ClinVar Miner

Submissions for variant NM_005562.3(LAMC2):c.283C>T (p.Arg95Ter) (rs80356683)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Women's Health, Inc. RCV000015656 SCV001193868 pathogenic Junctional epidermolysis bullosa gravis of Herlitz 2019-11-11 criteria provided, single submitter clinical testing NM_005562.2(LAMC2):c.283C>T(R95*) is classified as pathogenic in the context of LAMC2-related junctional epidermolysis bullosa. Sources cited for classification include the following: PMID 17916201, 9085255, 15373767, 8012394 and 8983017. Classification of NM_005562.2(LAMC2):c.283C>T(R95*) is based on the following criteria: The variant causes a premature termination codon that is expected to be targeted by nonsense-mediated mRNA decay and is reported in individuals with the relevant phenotype. Please note: this variant was assessed in the context of healthy population screening.
Invitae RCV001243997 SCV001417189 pathogenic not provided 2019-10-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg95*) in the LAMC2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs80356683, ExAC 0.001%). This variant has been observed in an individual affected with junctional epidermolysis bullosa (PMID: 8012394). ClinVar contains an entry for this variant (Variation ID: 14555). Loss-of-function variants in LAMC2 are known to be pathogenic (PMID: 11907499, 16473856). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000015656 SCV000035921 pathogenic Junctional epidermolysis bullosa gravis of Herlitz 1994-03-01 no assertion criteria provided literature only
GeneReviews RCV000015656 SCV000041152 pathologic Junctional epidermolysis bullosa gravis of Herlitz 2008-02-22 no assertion criteria provided curation Converted during submission to Pathogenic.

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