ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.4373C>T (p.Pro1458Leu)

gnomAD frequency: 0.00150  dbSNP: rs79378857
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000413296 SCV001031904 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001144468 SCV001305068 likely benign Epidermolysis bullosa dystrophica 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen RCV000413296 SCV004154484 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing COL7A1: BS2
GeneDx RCV000413296 SCV000490486 pathogenic not provided 2015-06-02 flagged submission clinical testing The P1458L pathogenic variant in the COL7A1 gene has been reported previously in association with epidermolysis bullosa in two individuals who harbored a second Glycine substitution variant on the same allele as P1458L and a third COL7A1 mutation on the opposite allele (Varki et al., 2007). Although not present in the homozygous state, the NHLBI Exome Sequencing Project reports P1458L was observed in 26/8600 alleles (0.3%) from individuals of European background. P1458L is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret P1458L as a pathogenic variant.

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.