ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.8075G>A (p.Gly2692Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002283712 SCV002572712 likely pathogenic Recessive dystrophic epidermolysis bullosa 2022-09-01 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.97; 3Cnet: 0.89). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with COL7A1 -related disorder (PMID: 29512197). The variant has been reported to be in trans with a pathogenic variant as either compound heterozygous or homozygous in at least one similarly affected unrelated individual (PMID: 29512197). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.

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