Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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 |
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. |
Gene |
RCV003318574 | SCV004023208 | not provided | Generalized dominant dystrophic epidermolysis bullosa | no assertion provided | literature only |