ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.6501+1G>C

gnomAD frequency: 0.00003  dbSNP: rs759644973
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001388067 SCV001588905 pathogenic not provided 2024-01-02 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 79 of the COL7A1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in COL7A1 are known to be pathogenic (PMID: 16971478). This variant is present in population databases (rs759644973, gnomAD 0.003%). Disruption of this splice site has been observed in individuals with recessive dystrophic epidermolysis bullosa (PMID: 10504458, 12485454). ClinVar contains an entry for this variant (Variation ID: 1074690). 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 RCV001388067 SCV003929559 pathogenic not provided 2023-06-02 criteria provided, single submitter clinical testing Identified as heterozygous in patients with a clinical diagnosis of Hallopeau-Siemens RDEB in published literature, however, a second COL7A1 variant was not identified (Whittock et al., 1999; Pourreyron et al., 2007); Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 27537055, 25525159, 10504458, 17495952, 29625052)
CeGaT Center for Human Genetics Tuebingen RCV001388067 SCV004703634 pathogenic not provided 2023-12-01 criteria provided, single submitter clinical testing COL7A1: PVS1:Strong, PM2, PM3, PP4:Moderate
Natera, Inc. RCV001826179 SCV002079217 pathogenic Epidermolysis bullosa dystrophica 2020-05-18 no assertion criteria provided clinical testing

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