Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001330017 | SCV001521607 | uncertain significance | X-linked intellectual disability with marfanoid habitus | 2019-09-19 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV003763962 | SCV002220450 | uncertain significance | FG syndrome | 2023-06-20 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 26 of the MED12 gene. It does not directly change the encoded amino acid sequence of the MED12 protein. This variant is present in population databases (no rsID available, gnomAD 0.005%). 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: 1028859). 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. |