Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000464302 | SCV000541805 | pathogenic | Ehlers-Danlos syndrome, type 4 | 2021-09-17 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in COL3A1 are known to be pathogenic (PMID: 24922459). This sequence change deletes 1 nucleotide from exon 23 of the COL3A1 mRNA (c.1652delC), causing a frameshift at codon 551. This creates a premature translational stop signal (p.Pro551Glnfs*240) and is expected to result in an absent or disrupted protein product. |
Gene |
RCV001662417 | SCV001875295 | pathogenic | not provided | 2022-05-19 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge |