Submissions for variant NM_022455.5(NSD1):c.6795C>T (p.Ser2265=)

gnomAD frequency: 0.00009  dbSNP: rs148585227

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003232359	SCV001645491	likely benign	Sotos syndrome	2022-08-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002368366	SCV002663780	likely benign	Inborn genetic diseases	2020-07-19	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.
Fulgent Genetics, Fulgent Genetics	RCV003232359	SCV002794758	likely benign	Sotos syndrome	2022-02-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004751983	SCV005344396	likely benign	NSD1-related disorder	2022-12-28	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).