ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.2318_2321dup (p.Glu774delinsAspTer) (rs1064797079)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001214975 SCV001386688 pathogenic not provided 2020-07-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu774Aspfs*2) in the COL7A1 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 been observed in an individual affected with dystrophic epidermolysis bullosa (PMID: 29531004). This variant is also known as c.2321_2322insCTGA p.Glu774AspfsX1 in the literature. Loss-of-function variants in COL7A1 are known to be pathogenic (PMID: 16971478). For these reasons, this variant has been classified as Pathogenic.
Gansu Province Medical Genetics Center RCV000487456 SCV000574543 pathogenic Recessive dystrophic epidermolysis bullosa no assertion criteria provided clinical testing

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