ClinVar Miner

Submissions for variant NM_001759.4(CCND2):c.839C>T (p.Thr280Ile)

dbSNP: rs587777620
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 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].
GeneDx 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, Klinikum Rechts Der Isar, Tu München 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).

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