Submissions for variant NM_001365902.3(NFIX):c.43_49dup (p.Glu17fs)

dbSNP: rs1599737421

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000818364	SCV000958974	pathogenic	Marshall-Smith syndrome; Malan overgrowth syndrome	2018-09-20	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Glu25Valfs*31) in the NFIX gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NFIX-related disease. Loss-of-function variants in NFIX are known to be pathogenic (PMID: 24924640, 20673863, 20949508, 25118028). For these reasons, this variant has been classified as Pathogenic.
GeneDx	RCV003106076	SCV003761978	pathogenic	not provided	2022-07-27	criteria provided, single submitter	clinical testing	Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Also known as c.43_49dup, p.(Glu17Valfs*31); This variant is associated with the following publications: (PMID: 31785789, 31278258, 29897170)
CeGaT Center for Human Genetics Tuebingen	RCV003106076	SCV004011026	pathogenic	not provided	2023-06-01	criteria provided, single submitter	clinical testing	NFIX: PVS1, PS2, PM2, PS4:Supporting
Juno Genomics, Hangzhou Juno Genomics, Inc	RCV004796323	SCV005418950	pathogenic	Malan overgrowth syndrome		criteria provided, single submitter	clinical testing	PVS1+PM2_Supporting+PS4_Supporting+PM6