Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Baylor Genetics | RCV001330016 | SCV001521606 | uncertain significance | X-linked intellectual disability with marfanoid habitus | 2019-04-11 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
| Ambry Genetics | RCV004035688 | SCV004905262 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-12-13 | criteria provided, single submitter | clinical testing | The c.3613C>T (p.R1205C) alteration is located in exon 26 (coding exon 26) of the MED12 gene. This alteration results from a C to T substitution at nucleotide position 3613, causing the arginine (R) at amino acid position 1205 to be replaced by a cysteine (C). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. This missense alteration is located in a region that has a low rate of benign missense variation (Lek, 2016; Firth, 2009). This alteration is predicted to be deleterious by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Gene |
RCV004783955 | SCV005396140 | uncertain significance | not provided | 2024-05-10 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |