Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000503631 | SCV000594187 | uncertain significance | not specified | 2017-03-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000657862 | SCV000779622 | uncertain significance | not provided | 2023-04-28 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |
ARUP Laboratories, |
RCV000657862 | SCV000885210 | uncertain significance | not provided | 2018-03-19 | criteria provided, single submitter | clinical testing | The COL11A2 c.3173C>T; p.Pro1058Leu variant (rs562253142, ClinVar variant ID 434809), to our knowledge, is not reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the genome Aggregation Database (gnomAD) with an overall population frequency of 0.004% (identified on 10 out of 276,252 chromosomes). The proline at position 1058 is highly conserved, considering 11 species, and computational analyses of the effects of the p.Pro1058Leu variant on protein structure and function predict a deleterious effect (SIFT: damaging, PolyPhen-2: probably damaging). Based on the available information, the clinical significance of the p.Pro1058Leu variant cannot be determined with certainty. |
Invitae | RCV000657862 | SCV002317442 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000657862 | SCV003831158 | uncertain significance | not provided | 2021-10-13 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003932823 | SCV004750429 | uncertain significance | COL11A2-related condition | 2023-12-26 | criteria provided, single submitter | clinical testing | The COL11A2 c.3173C>T variant is predicted to result in the amino acid substitution p.Pro1058Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.025% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |