Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Lupski Lab, |
RCV000119268 | SCV000256730 | pathogenic | Visceral myopathy 1 | 2014-03-27 | criteria provided, single submitter | research | |
Gene |
RCV000493883 | SCV000583023 | likely pathogenic | not provided | 2015-11-24 | criteria provided, single submitter | clinical testing | The R40C variant in the ACTG2 gene has been reported previously in the apparently de novo, heterozygous state in one individual with megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) (Wangler et al., 2014). The R40C variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R40C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants at the same residue (R40H) and at nearby residue (M45T), have been reported in the Human Gene Mutation Database in association with MMIHS (Stenson et al., 2014), supporting the functional importance of this region of the protein. Therefore, we interpret R40C as a likely pathogenic variant |
Ce |
RCV000493883 | SCV001248157 | pathogenic | not provided | 2019-07-01 | criteria provided, single submitter | clinical testing | |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV000119268 | SCV002512373 | likely pathogenic | Visceral myopathy 1 | 2021-04-22 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PS4 supporting, PM2, PM6, PP2, PP3 |
Prevention |
RCV003975065 | SCV004797903 | pathogenic | ACTG2-related condition | 2023-12-16 | criteria provided, single submitter | clinical testing | The ACTG2 c.118C>T variant is predicted to result in the amino acid substitution p.Arg40Cys. This variant has been reported as de novo and of unknown inheritance in two patients with megacystis-microcolon-intestinal hypoperistalsis syndrome (Wangler et al. 2014. PubMed ID: 24676022; Halim et al. 2015. PubMed ID: 26647307). This variant has not been reported in a large population database, indicating this variant is rare. This variant is interpreted as pathogenic. |
OMIM | RCV001535395 | SCV000154703 | pathogenic | Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | 2014-03-01 | no assertion criteria provided | literature only | |
Gene |
RCV000119268 | SCV001739282 | not provided | Visceral myopathy 1 | no assertion provided | literature only | Favorable outcome for genotype-phenotype correlations |