ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.4550_4554del (p.Ala1517fs)

dbSNP: rs756897026
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biomedical Innovation Departament, CIEMAT RCV001352933 SCV001547556 pathogenic Epidermolysis bullosa dystrophica 2018-04-05 criteria provided, single submitter research
GeneDx RCV001566105 SCV001789577 pathogenic not provided 2019-12-13 criteria provided, single submitter clinical testing Frameshift 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 (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001566105 SCV003307943 pathogenic not provided 2022-10-05 criteria provided, single submitter clinical testing This variant is present in population databases (rs756897026, gnomAD 0.003%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1048111). This variant has not been reported in the literature in individuals affected with COL7A1-related conditions. This sequence change creates a premature translational stop signal (p.Ala1517Glyfs*3) 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).

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