Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV000824980 | SCV000966158 | likely pathogenic | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | 2018-08-07 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000824980 | SCV001529769 | uncertain significance | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | 2018-04-13 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Gene |
RCV002282386 | SCV002571572 | pathogenic | not provided | 2022-09-07 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 34087052, 34490615, 31441589, 31056854, 29642246) |
MGZ Medical Genetics Center | RCV000824980 | SCV002581548 | likely pathogenic | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | 2022-03-24 | criteria provided, single submitter | clinical testing | |
Institute Of Human Genetics Munich, |
RCV000824980 | SCV002764962 | likely pathogenic | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | 2021-02-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002282386 | SCV003461662 | pathogenic | not provided | 2022-06-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CCND2 protein function. ClinVar contains an entry for this variant (Variation ID: 666559). This missense change has been observed in individual(s) with clinical features of megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (PMID: 31056854). In at least one individual the variant was observed to be de novo. This variant is present in population databases (rs587777620, gnomAD 0.0009%). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 280 of the CCND2 protein (p.Thr280Ile). |