Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Lupski Lab, |
RCV000202479 | SCV000256738 | pathogenic | Visceral myopathy 1 | 2014-03-27 | criteria provided, single submitter | research | |
Rady Children's Institute for Genomic Medicine, |
RCV000202479 | SCV000996057 | pathogenic | Visceral myopathy 1 | 2017-02-17 | criteria provided, single submitter | clinical testing | The c.593G>A (p.Gly198Asp) variant is a missense variant in the ACTG2 gene. This variant has a previously reported in a patient with megacystis-microcolon-intestinal hypoperistalsis syndrome (PMID: 24676022). This variant is not seen in ExAC database thus it is presumed to be rare. This variant is predicted to be damaging based on in silico modeling. No functional studies exist for this particular variant. Based on the combined evidence and the variant being de novo in this patient, the variant is classified as pathogenic. |