Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002664941 | SCV003535727 | pathogenic | Inborn genetic diseases | 2022-03-24 | criteria provided, single submitter | clinical testing | The c.340delA (p.S114Vfs*60) alteration, located in exon 6 (coding exon 5) of the COL17A1 gene, consists of a deletion of one nucleotide at position 340, causing a translational frameshift with a predicted alternate stop codon after 60 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on data from gnomAD, this alteration has an overall frequency of 0.0016% (4/251338) total alleles studied. The highest observed frequency was 0.0035% (4/113650) of European (non-Finnish) alleles. Based on the available evidence, this alteration is classified as pathogenic. |
| Invitae | RCV003565572 | SCV004325351 | pathogenic | not provided | 2023-12-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser114Valfs*60) in the COL17A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL17A1 are known to be pathogenic (PMID: 16473856, 17344927, 20301304, 21357940, 24319098). This variant is present in population databases (rs766864711, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with COL17A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2211005). For these reasons, this variant has been classified as Pathogenic. |
| Leeds Amelogenesis Imperfecta Research Group, |
RCV003314753 | SCV004012853 | pathogenic | Amelogenesis imperfecta type 1A | 2023-07-12 | no assertion criteria provided | research |