Submissions for variant NM_001008537.3(NEXMIF):c.1042C>T (p.Arg348Ter)

dbSNP: rs886041971

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000314302	SCV000330786	pathogenic	not provided	2025-01-14	criteria provided, single submitter	clinical testing	Nonsense 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); This variant is associated with the following publications: (PMID: 35982159, 33057194, 35599849, 37643945, 39129698)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000314302	SCV001207274	pathogenic	not provided	2022-10-04	criteria provided, single submitter	clinical testing	This variant has not been reported in the literature in individuals affected with NEXMIF-related conditions. This sequence change creates a premature translational stop signal (p.Arg348*) in the NEXMIF gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NEXMIF are known to be pathogenic (PMID: 23615299). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 280835). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	RCV000767534	SCV000898152	pathogenic	X-linked intellectual disability, Cantagrel type	2018-06-28	no assertion criteria provided	clinical testing