ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.1837C>T (p.Arg613Ter)

gnomAD frequency: 0.00001  dbSNP: rs759634066
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001388797 SCV001589936 pathogenic not provided 2023-10-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg613*) 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 (rs759634066, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with clinical features of autosomal recessive dystrophic epidermolysis bullosa (PMID: 16971478). ClinVar contains an entry for this variant (Variation ID: 1075255). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001388797 SCV001773354 pathogenic not provided 2022-01-20 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 24213372, 32484238, 23546300, 16971478)
Revvity Omics, Revvity RCV001388797 SCV002019690 pathogenic not provided 2019-03-13 criteria provided, single submitter clinical testing
Center for Research in Genodermatoses and Epidermolysis Bullosa, University of Buenos Aires RCV002276723 SCV002499311 pathogenic Recessive dystrophic epidermolysis bullosa 2022-03-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003898367 SCV004711984 pathogenic COL7A1-related condition 2023-11-21 criteria provided, single submitter clinical testing The COL7A1 c.1837C>T variant is predicted to result in premature protein termination (p.Arg613*). This variant has been reported in the compound heterozygous state in individuals with epidermolysis bullosa dystrophica (see, for example, Appendix I, Varki et al. 2007. PubMed ID: 16971478; Table S3, Chen et al. 2020. PubMed ID: 32484238; Table S2, Natale et al. 2022. PubMed ID: 35979658). This variant is reported in 0.0035% of alleles in individuals of European (non-Finnish) descent in a large population database. Nonsense variants in COL7A1 are expected to be pathogenic. This variant is interpreted as pathogenic.

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