ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.5188C>T (p.Arg1730Ter)

gnomAD frequency: 0.00001  dbSNP: rs746053763
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001204717 SCV001375936 pathogenic not provided 2023-10-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1730*) 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 present in population databases (rs746053763, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with epidermolysis bullosa dystrophica (PMID: 10504458). ClinVar contains an entry for this variant (Variation ID: 936007). For these reasons, this variant has been classified as Pathogenic.
Biomedical Innovation Departament, CIEMAT RCV001352852 SCV001547318 pathogenic Epidermolysis bullosa dystrophica 2015-04-30 criteria provided, single submitter research
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV003148946 SCV003806430 pathogenic Recessive dystrophic epidermolysis bullosa 2023-02-03 criteria provided, single submitter clinical testing A homozygous nonsense variation in exon 59 of the COL7A1 gene that results in a stop codon and premature truncation of the protein at codon 1730 (p.Arg1730Ter) was detected. This variant has not been reported in the 1000 genomes and gnomAD databases. The in silico prediction of the variant is damaging by MuationTaster2. The reference codon is conserved across mammals. In summary, the variant meets our criteria to be classified as pathogenic.

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