Submissions for variant NM_022455.5(NSD1):c.6455G>A (p.Arg2152Gln)

dbSNP: rs587784200

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV003231320	SCV000194260	pathogenic	Sotos syndrome	2013-02-08	criteria provided, single submitter	clinical testing
GeneDx	RCV001575807	SCV001802871	likely pathogenic	not provided	2023-12-16	criteria provided, single submitter	clinical testing	Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 15720303, 28475857, 26896805)
Revvity Omics, Revvity	RCV003231320	SCV002020168	likely pathogenic	Sotos syndrome	2019-09-09	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003231320	SCV002054974	likely pathogenic	Sotos syndrome	2021-07-15	criteria provided, single submitter	clinical testing
MGZ Medical Genetics Center	RCV003231320	SCV002581868	pathogenic	Sotos syndrome	2022-08-22	criteria provided, single submitter	clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	RCV003231320	SCV003920930	pathogenic	Sotos syndrome	2023-01-31	criteria provided, single submitter	clinical testing
Institute of Human Genetics, University of Leipzig Medical Center	RCV003231320	SCV005368302	pathogenic	Sotos syndrome	2024-08-15	criteria provided, single submitter	clinical testing	Criteria applied: PS2_MOD,PS4_MOD,PM1,PM2,PM5,PP2,PP3