ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.2783_2784insGACAC (p.Gln929fs)

dbSNP: rs2045388619
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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 RCV001352800 SCV001547295 pathogenic Epidermolysis bullosa dystrophica 2019-03-14 criteria provided, single submitter research
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002245975 SCV002512507 pathogenic Recessive dystrophic epidermolysis bullosa; Generalized dominant dystrophic epidermolysis bullosa 2022-01-28 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PS4 moderate, PM2 moderate, PM3 supporting
Invitae RCV002547569 SCV003459784 pathogenic not provided 2023-12-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln929Thrfs*6) 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: 29473190, 31001817). For these reasons, this variant has been classified as Pathogenic.

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