ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.4373C>T (p.Pro1458Leu) (rs79378857)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413296 SCV000490486 pathogenic not provided 2015-06-02 criteria provided, single submitter 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.
Invitae RCV000413296 SCV001031904 benign not provided 2020-12-07 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001144468 SCV001305068 likely benign Dystrophic epidermolysis bullosa 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000413296 SCV001744215 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000413296 SCV001807022 likely benign not provided no assertion criteria provided clinical testing

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