Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002535748 | SCV003201115 | pathogenic | not provided | 2022-05-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly1215Alafs*12) in the COL2A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL2A1 are known to be pathogenic (PMID: 20179744). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COL2A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 635549). For these reasons, this variant has been classified as Pathogenic. |
Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV000787022 | SCV000925932 | pathogenic | Stickler syndrome type 1 | 2019-02-27 | no assertion criteria provided | clinical testing |