ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.5017G>A (p.Gly1673Arg)

dbSNP: rs2107706875
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001808928 SCV002059194 likely pathogenic Recessive dystrophic epidermolysis bullosa 2022-01-03 criteria provided, single submitter clinical testing Same nucleotide change resulting in same amino acid change has been previously reported to be associated with COL7A1 related disorder (PMID:16971478, PS1_P). A different missense change at the same codon has been reported to be associated with COL7A1 related disorder (PMID:27899325, PM5_P). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.982, 3CNET: 0.894, PP3_P). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

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