ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.5668G>A (p.Gly1890Ser)

dbSNP: rs2107682264
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002052217 SCV002318790 uncertain significance Recessive dystrophic epidermolysis bullosa 2022-03-22 criteria provided, single submitter clinical testing he variant is located in a mutational hot spot and/or well-established functional domain in which established pathogenic variants have been reported. It is not observed in the gnomAD v2.1.1 dataset. TIn silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.921>=0.6, 3CNET: 0.937>=0.75). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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