Submissions for variant NM_152594.3(SPRED1):c.52C>T (p.Arg18Ter)

dbSNP: rs750777752

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000645301	SCV000767044	pathogenic	Legius syndrome	2023-03-20	criteria provided, single submitter	clinical testing	ClinVar contains an entry for this variant (Variation ID: 536693). This premature translational stop signal has been observed in individuals with Legius syndrome (PMID: 19920235, 20179001, 21089071). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg18*) in the SPRED1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SPRED1 are known to be pathogenic (PMID: 17704776). For these reasons, this variant has been classified as Pathogenic.
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000645301	SCV000782321	pathogenic	Legius syndrome	2016-11-01	criteria provided, single submitter	clinical testing
Mendelics	RCV000645301	SCV001139542	pathogenic	Legius syndrome	2019-05-28	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001813536	SCV002060972	pathogenic	Noonan syndrome and Noonan-related syndrome	2020-01-01	criteria provided, single submitter	clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	RCV000645301	SCV002568228	pathogenic	Legius syndrome	2022-06-16	criteria provided, single submitter	clinical testing	PVS1 PM2 PS4_Mod
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital	RCV000645301	SCV001482324	pathogenic	Legius syndrome	2019-05-31	no assertion criteria provided	research