ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.5499C>T (rs758886532)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414006 SCV000490493 pathogenic not provided 2018-10-24 criteria provided, single submitter clinical testing The c.5499 C>T; p.Gly1833Gly pathogenic variant in the COL7A1 gene has been reported previously as a pathogenic variant (Kern et al. 2009) and functional studies have shown that it creates a cryptic splice donor site in exon 64 resulting in the deletion of 35 bases and a frameshift resulting in a stop codon 25 amino acids upstream, denoted p.E1834RfsX25. The c.5499 C>T; p.Gly1833Gly variant was not observed in significant numbers within 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. In silico analysis predicts this variant probably results in the formation of a cryptic splice donor site in exon 64. Numerous other splicing variants in nearby residues have been reported in the Human Gene Mutation Database in association with DEB (Stenson et al., 2014), supporting the functional importance of this region of the protein. We interpret c.5499 C>T; p.Gly1833Gly as a pathogenic variant.
Biomedical Innovation Departament, CIEMAT RCV001352700 SCV001547326 pathogenic Dystrophic epidermolysis bullosa 2017-12-21 criteria provided, single submitter research

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