Submissions for variant NM_001127671.2(LIFR):c.653dup (p.Glu219fs)

dbSNP: rs886042160

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000790750	SCV000332228	pathogenic	not provided	2015-06-19	criteria provided, single submitter	clinical testing
Invitae	RCV000790750	SCV001374288	pathogenic	not provided	2019-09-10	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in LIFR are known to be pathogenic (PMID: 14740318). This variant has been observed in several individuals affected with Stuve-Wiedemann syndrome (PMID: 14740318). ClinVar contains an entry for this variant (Variation ID: 281444). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu219Glyfs*3) in the LIFR gene. It is expected to result in an absent or disrupted protein product.
GeneDx	RCV000790750	SCV002008998	pathogenic	not provided	2022-11-08	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); This variant is associated with the following publications: (PMID: 14740318)
OMIM	RCV000348821	SCV000035810	pathogenic	Stuve-Wiedemann syndrome	2022-02-16	no assertion criteria provided	literature only
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University	RCV000761445	SCV000891529	pathogenic	Familial hemophagocytic lymphohistiocytosis 2	2017-12-30	no assertion criteria provided	curation
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	RCV003326396	SCV003927818	pathogenic	Stüve-Wiedemann syndrome 1	2023-04-01	no assertion criteria provided	clinical testing