ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.325_326insCG (p.Glu109fs)

dbSNP: rs1235811820
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biomedical Innovation Departament, CIEMAT RCV001352745 SCV001547278 pathogenic Epidermolysis bullosa dystrophica 2019-11-18 criteria provided, single submitter research
Invitae RCV001871900 SCV002168070 pathogenic not provided 2023-07-16 criteria provided, single submitter clinical testing This variant is also known as 325insCG. ClinVar contains an entry for this variant (Variation ID: 1047970). 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. This premature translational stop signal has been observed in individuals with dystrophic epidermolysis bullosa (PMID: 9326325, 22209565, 31001817, 35979658). This sequence change creates a premature translational stop signal (p.Glu109Alafs*39) 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).
Center for Research in Genodermatoses and Epidermolysis Bullosa, University of Buenos Aires RCV002276701 SCV002499317 pathogenic Recessive dystrophic epidermolysis bullosa 2022-03-14 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002245974 SCV002512518 pathogenic Recessive dystrophic epidermolysis bullosa; Generalized dominant dystrophic epidermolysis bullosa 2021-10-26 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2 moderate, PP4 supporting
Mendelics RCV002246332 SCV002519422 pathogenic Transient bullous dermolysis of the newborn 2022-05-04 criteria provided, single submitter clinical testing

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