ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.5287C>T (p.Arg1763Ter)

dbSNP: rs1360704374
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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 RCV001352853 SCV001547319 pathogenic Epidermolysis bullosa dystrophica 2018-06-20 criteria provided, single submitter research
Revvity Omics, Revvity RCV001780265 SCV002019686 pathogenic not provided 2020-05-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001780265 SCV003525161 pathogenic not provided 2024-09-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1763*) 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 (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with autosomal recessive epidermolysis bullosa dystrophica (PMID: 19681861, 33274474). ClinVar contains an entry for this variant (Variation ID: 1048040). For these reasons, this variant has been classified as Pathogenic.

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