ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.887delG (rs1131691385)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493245 SCV000582019 pathogenic not provided 2017-12-29 criteria provided, single submitter clinical testing The c.887delG variant in the COL7A1 gene has been reported previously in association with RDEB (Christiano et al., 1996). The c.887delG variant causes a frameshift starting with codon Glycine 296, changes this amino acid to a Valine residue, and creates a premature Stop codon at position 5 of the new reading frame, denoted p.Gly296ValfsX5. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.887delG variant is not observed in large population cohort (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.887delG as a pathogenic variant.
Biomedical Innovation Departament, CIEMAT RCV001352751 SCV001547284 pathogenic Dystrophic epidermolysis bullosa 2018-10-19 criteria provided, single submitter research
Invitae RCV000493245 SCV001579520 pathogenic not provided 2020-01-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly296Valfs*5) 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 individual(s) with dystrophic epidermolysis bullosa (PMID: 8900535, 31001817). This variant is also known as 884delG in the literature. ClinVar contains an entry for this variant (Variation ID: 429443). Loss-of-function variants in COL7A1 are known to be pathogenic (PMID: 16971478). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV001273343 SCV001456303 pathogenic Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-09-16 no assertion criteria provided clinical testing

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