ClinVar Miner

Submissions for variant NM_000227.5(LAMA3):c.2248C>T (p.Gln750Ter) (rs1555735252)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666744 SCV000791094 likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz 2017-04-20 criteria provided, single submitter clinical testing
GeneDx RCV000760904 SCV000890800 pathogenic not provided 2019-01-23 criteria provided, single submitter clinical testing The Q750X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is not observed in large population cohorts (Lek et al., 2016). It is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. We interpret this variant as pathogenic.

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