Submissions for variant NM_022455.5(NSD1):c.1149C>T (p.Ile383=)

gnomAD frequency: 0.00190  dbSNP: rs34921128

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV003231164	SCV000194079	uncertain significance	Sotos syndrome	2013-02-08	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000153607	SCV000203152	benign	not specified	2014-03-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000153607	SCV000513982	benign	not specified	2015-03-31	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV003231164	SCV000749470	benign	Sotos syndrome	2022-10-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316937	SCV000849906	likely benign	Inborn genetic diseases	2017-05-31	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome-Nilou Lab	RCV003231164	SCV002054984	benign	Sotos syndrome	2021-07-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003311695	SCV004011641	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	NSD1: BP4, BP7, BS1