Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Geisinger Autism and Developmental Medicine Institute, |
RCV000678351 | SCV000804415 | uncertain significance | X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Blepharophimosis - intellectual disability syndrome, MKB type | 2017-11-27 | criteria provided, single submitter | provider interpretation | This 6 year old male with autism spectrum disorder was found to carry a maternally inherited missense variant in the MED12 gene. He is non-dysmorphic and normocephalic. Dysmorphic features are common in MED12-Related disorders, as is intellectual disability, which is not currently a concern for this child. Carrier females are typically unaffected, and this patient's mother does not have any neurodevelopmental concerns. The variant is absent from population databases and has not been reported previously in affected individuals, to our knowledge. Computational models predict the variant to be benign. A different, semi-conservative missense variant at the same amino acid residue is present in gnomAD at a very low frequency (0.001%). |
| Gene |
RCV001766456 | SCV001989178 | uncertain significance | not provided | 2019-11-05 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |