Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002314182 | SCV000738439 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2016-01-18 | criteria provided, single submitter | clinical testing | The c.6177_6191del15 variant (also known as p.Q2072_Q2076del) is located in coding exon 42 of the MED12 gene. This variant results from an in-frame deletion of between nucleotide positions 6177 and 6191. This results in the deletion of five glutamine residues within a poly-glutamine track. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6327 samples with coverage at this position. This amino acid position is, in general, well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear. |
Genomic Research Center, |
RCV000626252 | SCV000746905 | uncertain significance | Blepharophimosis - intellectual disability syndrome, MKB type | 2017-12-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003762835 | SCV004531628 | uncertain significance | FG syndrome | 2023-08-08 | criteria provided, single submitter | clinical testing | This variant, c.6177_6191del, results in the deletion of 5 amino acid(s) of the MED12 protein (p.Gln2072_Gln2076del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with MED12-related conditions. ClinVar contains an entry for this variant (Variation ID: 519565). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |