ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.553C>T (rs886041186)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000360923 SCV000329311 pathogenic not provided 2016-11-17 criteria provided, single submitter clinical testing The p.R185X variant in the COL7A1 gene has been reported previously in association with autosomal recessive DEB (Hovnanian et al., 1997). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. p.R185X was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret p.R185X as a pathogenic variant.
Invitae RCV000360923 SCV001202745 pathogenic not provided 2019-10-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg185*) 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 several individuals affected with autosomal recessive dystrophic epidermolysis bullosa (PMID: 9326325, 19665875, 20184583). ClinVar contains an entry for this variant (Variation ID: 279783). Loss-of-function variants in COL7A1 are known to be pathogenic (PMID: 16971478). For these reasons, this variant has been classified as Pathogenic.
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV001267646 SCV001445863 pathogenic Recessive dystrophic epidermolysis bullosa 2019-05-30 criteria provided, single submitter clinical testing This nonsense variant found in exon 5 of 118 is predicted to result in loss of normal protein function. This variant has been previously reported in patients with autosomal recessive epidermolysis bullosa dystrophica (PMID: 9326325, 21448560, 29473190) and has been classified as Pathogenic by a clinical diagnostic laboratory in the ClinVar database (Variation ID: 279783). It is present in the heterozygous state in the gnomAD population database at a frequency of 0.0004% (1/245764) and thus is presumed to be rare. Based on the available evidence, the c.553C>T (p.Arg185Ter) variant is classified as Pathogenic.
Biomedical Innovation Departament, CIEMAT RCV001352749 SCV001547282 pathogenic Dystrophic epidermolysis bullosa 2010-06-11 criteria provided, single submitter research

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