ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.6745C>T (p.Gln2249Ter)

dbSNP: rs769294243
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001051947 SCV001216132 pathogenic not provided 2022-04-01 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 848235). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with dystrophic epidermolysis bullosa (PMID: 19681861). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln2249*) in the COL7A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL7A1 are known to be pathogenic (PMID: 16971478).
Natera, Inc. RCV001836091 SCV002079212 pathogenic Epidermolysis bullosa dystrophica 2021-05-24 no assertion criteria provided clinical testing

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