ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.2858_2859del (p.Glu953fs)

dbSNP: rs2107757949
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001807956 SCV002058274 pathogenic Recessive dystrophic epidermolysis bullosa 2022-01-03 criteria provided, single submitter clinical testing Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). The variant has been reported to be associated with COL7A1 related disorder in a similarly affected individual (3billion dataset). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). In addition, patient's phenotype is considered compatible with epidermolysis bullosa dystrophica.Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

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