ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.5261dup (p.Gly1755fs) (rs1057517723)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000412717 SCV000490491 pathogenic not provided 2016-06-10 criteria provided, single submitter clinical testing The c.5261dupC pathogenic variant in the COL7A1 gene has been reported previously in association with dystrophic epidermolysis bullosa (DEB) in two compound heterozygous patients (Abu Sa'd et al., 2006; Kuttner et al., 2013). It has also been observed in the homozygous state in patients referred for testing at GeneDx. The duplication causes a frameshift starting with codon Glycine 1755, changes this amino acid to a Arginine residue and creates a premature Stop codon at position 17 of the new reading frame, denoted p.Gly1755ArgfsX17 and is located within the triple helical domain of the protein. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In addition, the c.5261dupC variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.
Illumina Clinical Services Laboratory,Illumina RCV000778704 SCV000915057 pathogenic Dystrophic epidermolysis bullosa 2017-08-24 criteria provided, single submitter clinical testing The COL7A1 c.5261dupC (p.Gly1755ArgfsTer17) variant results in a frameshift that is predicted to result in premature termination of the protein. The p.Gly1755ArgfsTer17 variant has been reported in three studies and is found in a total of four individuals with autosomal recessive dystrophic epidermolysis bullosa (DEB), including in one in a homozygous state and in three in a compound heterozygous state (Abu Sa'd et al. 2006; Kern et al. 2009; Vahidnezhad et al. 2017). Three individuals were diagnosed with severe generalized recessive DEB. Control data are unavailable for this variant. The p.Gly1755ArgfsTer17 variant is not found in the 1000 Genomes Project, the Exome Sequencing Project, the Exome Aggregation Consortium, or the Genome Aggregation Database. Based on the evidence and potential impact of frameshift variants, the p.Gly1755ArgfsTer17 variant is classified as pathogenic for dystrophic epidermolysis bullosa. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Natera, Inc. RCV001272356 SCV001454268 pathogenic Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-09-16 no assertion criteria provided clinical testing

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