ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.6020T>C (p.Ile2007Thr)

dbSNP: rs1554204921
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV003231511 SCV000596111 likely pathogenic Sotos syndrome 2017-01-19 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV003231511 SCV000803850 likely pathogenic Sotos syndrome 2016-08-03 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000850418 SCV000992616 likely pathogenic Marfanoid habitus and intellectual disability criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV005056091 SCV002963507 pathogenic not provided 2022-07-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 2007 of the NSD1 protein (p.Ile2007Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of Sotos syndrome (PMID: 32277047). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 436065). 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 NSD1 protein function.

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