ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.7249C>T (p.Gln2417Ter)

dbSNP: rs983476178
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biomedical Innovation Departament, CIEMAT RCV001352827 SCV001547371 pathogenic Epidermolysis bullosa dystrophica 2009-10-08 criteria provided, single submitter research
Center for Research in Genodermatoses and Epidermolysis Bullosa, University of Buenos Aires RCV002276704 SCV002499307 pathogenic Recessive dystrophic epidermolysis bullosa 2022-03-14 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002276704 SCV003807600 pathogenic Recessive dystrophic epidermolysis bullosa 2022-03-09 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PS4 supporting, PM2 moderated, PM3 supporting
Labcorp Genetics (formerly Invitae), Labcorp RCV003558819 SCV004292710 pathogenic not provided 2023-11-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln2417*) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with autosomal recessive dystrophic epidermolysis bullosa (PMID: 10504458). ClinVar contains an entry for this variant (Variation ID: 1048023). 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.

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