Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Department of Otolaryngology – Head & Neck Surgery, |
RCV001375159 | SCV001571717 | likely pathogenic | Hearing impairment | 2021-04-12 | criteria provided, single submitter | clinical testing | PM2_Moderate, PP3_Strong |
| Invitae | RCV003120590 | SCV003786867 | uncertain significance | not provided | 2023-12-15 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 870 of the COL11A1 protein (p.Arg870Trp). This variant is present in population databases (rs778379327, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with COL11A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1064929). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Ambry Genetics | RCV003375273 | SCV004080209 | uncertain significance | Inborn genetic diseases | 2023-08-02 | criteria provided, single submitter | clinical testing | The c.2608C>T (p.R870W) alteration is located in exon 32 (coding exon 32) of the COL11A1 gene. This alteration results from a C to T substitution at nucleotide position 2608, causing the arginine (R) at amino acid position 870 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |