Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Center for Human Genetics, |
RCV000659383 | SCV000781194 | likely pathogenic | Stickler syndrome type 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001387827 | SCV001588547 | pathogenic | not provided | 2020-02-07 | criteria provided, single submitter | clinical testing | Loss-of-function variants in COL2A1 are known to be pathogenic (PMID: 20179744). This sequence change creates a premature translational stop signal (p.Cys52*) in the COL2A1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with COL2A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 547245). For these reasons, this variant has been classified as Pathogenic. |
| Gene |
RCV001387827 | SCV004168645 | pathogenic | not provided | 2023-10-10 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Nonsense 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) |
| Ambry Genetics | RCV004609480 | SCV005103880 | pathogenic | Inborn genetic diseases | 2024-05-14 | criteria provided, single submitter | clinical testing | The c.156C>A (p.C52*) alteration, located in exon 2 (coding exon 2) of the COL2A1 gene, consists of a C to A substitution at nucleotide position 156. This changes the amino acid from a cysteine (C) to a stop codon at amino acid position 52. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Based on the available evidence, this alteration is classified as pathogenic. |
| Prevention |
RCV004533444 | SCV004747486 | likely pathogenic | COL2A1-related disorder | 2024-01-26 | no assertion criteria provided | clinical testing | The COL2A1 c.156C>A variant is predicted to result in premature protein termination (p.Cys52*). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Nonsense variants in COL2A1 are expected to be pathogenic. This variant is interpreted as likely pathogenic. |