ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.4919del (p.Gly1640fs)

dbSNP: rs1057517722
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413273 SCV000490489 pathogenic not provided 2015-07-31 criteria provided, single submitter clinical testing The c.4919delG pathogenic variant in the COL7A1 gene has been reported previously in association with RDEB (Whittock et al., 1999, Varki et al 2007). The c.4919delG variant causes a frameshift starting with codon Gly1640, changes this amino acid to a Valine residue, and creates a premature Stop codon at position 70 of the new reading frame, denoted p.Gly1640ValfsX70. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.4919delG deletion 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 c.4919delG as a pathogenic variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV000413273 SCV001586079 pathogenic not provided 2023-05-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly1640Valfs*70) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with recessive dystrophic epidermolysis bullosa (PMID: 10504458, 21448560). ClinVar contains an entry for this variant (Variation ID: 372336). For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV003318574 SCV004023208 not provided Generalized dominant dystrophic epidermolysis bullosa no assertion provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.