Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000523016 | SCV000617519 | uncertain significance | not provided | 2019-08-20 | criteria provided, single submitter | clinical testing | Identified in a patient with hip pain and avascular necrosis of the femoral head whose niece had a history of epiphyseal dysplasia but did not harbor any variants in the COL2A1 gene (Kannu et al., 2011); also identified in a patient with early-onset bilateral sensorineural hearing loss (Miyagawa et al., 2013); Identified independently and in conjunction with additional variants in individuals referred for connective tissue disorder genetic testing at GeneDx; segregation data is limited or absent at this time; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not located in the triple helical region, where the majority of pathogenic missense variants occur (Stenson et al., 2014); This variant is associated with the following publications: (PMID: 23967202, 21671384, 27183340, 30328481) |
Genomic Research Center, |
RCV000022484 | SCV000746882 | likely pathogenic | Avascular necrosis of femoral head, primary, 1 | 2017-12-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000523016 | SCV002313977 | likely benign | not provided | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000523016 | SCV003828120 | uncertain significance | not provided | 2022-05-30 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003934848 | SCV004755079 | uncertain significance | COL2A1-related condition | 2024-02-13 | criteria provided, single submitter | clinical testing | The COL2A1 c.4148C>T variant is predicted to result in the amino acid substitution p.Thr1383Met. This variant has been reported in the heterozygous state in an individual with avascular necrosis of the femur head (Kannu et al. 2011. PubMed ID: 21671384) and in an individual with deafness (Table S2, Miyagawa et al. 2013. PubMed ID: 23967202). This variant is reported in 0.024% of alleles in individuals of European (Non-Finnish) descent in gnomAD. In ClinVar, this variant has classifications ranging from Likely Benign to Likely Pathogenic (https://www.ncbi.nlm.nih.gov/clinvar/variation/29637/). At this time the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
OMIM | RCV000022484 | SCV000043773 | pathogenic | Avascular necrosis of femoral head, primary, 1 | 2011-07-01 | no assertion criteria provided | literature only |