Total submissions: 10
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Mayo Clinic Laboratories, |
RCV001527678 | SCV007308065 | likely benign | not provided | 2023-11-14 | criteria provided, single submitter | clinical testing | BS1, BP4 |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000321030 | SCV006085841 | likely benign | not specified | 2025-05-19 | criteria provided, single submitter | clinical testing | Variant summary: COL1A2 c.3139G>A (p.Val1047Met) results in a conservative amino acid change in the encoded protein sequence. Algorithms developed to predict the effect of missense changes on protein structure and function all suggest that this variant is likely to be tolerated. The variant allele was found at a frequency of 0.00037 in 251276 control chromosomes. The observed variant frequency is approximately 13-fold of the estimated maximal expected allele frequency for a pathogenic variant in COL1A2 causing Osteogenesis Imperfecta phenotype (2.8e-05), suggesting the variant may be benign. c.3139G>A has been observed in at least one individual affected with Osteogenesis Imperfecta. However, the variant did not segregate with disease and was found to co-occurr with a COL1A2 exon 11-12 deletion which did segregate with disease within one family (Batkovskyte_2025), providing supporting evidence for a benign role. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 39513464). ClinVar contains an entry for this variant (Variation ID: 283153). Based on the evidence outlined above, the variant was classified as likely benign. |
| Ambry Genetics | RCV002321951 | SCV002607651 | likely benign | Cardiovascular phenotype | 2020-03-02 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| ARUP Laboratories, |
RCV001527678 | SCV001157204 | likely benign | not provided | 2024-06-21 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV002229743 | SCV001019949 | likely benign | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2026-01-26 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV001527678 | SCV000716542 | likely benign | not provided | 2021-05-21 | criteria provided, single submitter | clinical testing | |
| Eurofins Ntd Llc |
RCV000321030 | SCV000335076 | benign | not specified | 2015-09-25 | criteria provided, single submitter | clinical testing | |
| Prevention |
RCV003947859 | SCV004765623 | likely benign | COL1A2-related disorder | 2021-10-25 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
| Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001527678 | SCV001970224 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
| Genome Diagnostics Laboratory, |
RCV001527678 | SCV001808584 | likely benign | not provided | no assertion criteria provided | clinical testing |