ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.4018C>T (p.Arg1340Ter)

gnomAD frequency: 0.00002  dbSNP: rs761927109
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001072052 SCV001237395 pathogenic not provided 2023-12-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1340*) 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). This variant is present in population databases (rs761927109, gnomAD 0.04%). This premature translational stop signal has been observed in individuals with autosomal recessive dystrophic epidermolysis bullosa (PMID: 16189623, 31001817). ClinVar contains an entry for this variant (Variation ID: 864784). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001072052 SCV001795255 pathogenic not provided 2022-04-22 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 10504458, 20555349, 20598510, 31001817, 8037207, 16189623)
Mendelics RCV002249671 SCV002519418 pathogenic Transient bullous dermolysis of the newborn 2022-05-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482148 SCV002787411 pathogenic Recessive dystrophic epidermolysis bullosa; Pretibial dystrophic epidermolysis bullosa; Dominant dystrophic epidermolysis bullosa with absence of skin; Transient bullous dermolysis of the newborn; Epidermolysis bullosa pruriginosa; Nonsyndromic congenital nail disorder 8; Generalized dominant dystrophic epidermolysis bullosa 2021-10-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833679 SCV002079256 pathogenic Epidermolysis bullosa dystrophica 2021-04-28 no assertion criteria provided clinical testing

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