ClinVar

Description

Variant summary: COL7A1 c.7420C>T (p.Arg2474Cys) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 251364 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.7420C>T has been reported in the literature in individuals affected with Dystrophic Epidermolysis Bullosa, Recessive (Mariath_2019). This report does not provide unequivocal conclusions about association of the variant with Dystrophic Epidermolysis Bullosa, Recessive. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 31001817). No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.