Total submissions: 2
| 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. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV005409019 | SCV006073346 | uncertain significance | not specified | 2025-04-02 | criteria provided, single submitter | clinical testing | Variant summary: COL7A1 c.5026G>A (p.Gly1676Arg) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The frequency data for this variant in gnomAD is considered unreliable, as metrics indicate poor data quality at this position. To our knowledge, no occurrence of c.5026G>A in individuals affected with Dystrophic Epidermolysis Bullosa, Recessive and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1333696). Based on the evidence outlined above, the variant was classified as uncertain significance. |