ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.5026G>A (p.Gly1676Arg)

dbSNP: rs2107706791
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001808912 SCV002059165 uncertain significance Epidermolysis bullosa pruriginosa 2022-01-03 criteria provided, single submitter clinical testing A different missense change at the same codon has been reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000279789, PMID:23397949, PM5_M). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000000, PM2_M). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.885, PP3_P). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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