Submissions for variant NM_207122.2(EXT2):c.626+2_626+5del

dbSNP: rs1954108641

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001247830	SCV001421276	pathogenic	Exostoses, multiple, type 2	2021-10-05	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant is also known as c.IVS2+2_5delTAGG. Disruption of this splice site has been observed in individual(s) with multiple osteochondromatosis (PMID: 29126381). This variant is not present in population databases (ExAC no frequency). This sequence change affects a splice site in intron 3 of the EXT2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in EXT2 are known to be pathogenic (PMID: 10679937, 19810120).
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	RCV001247830	SCV005044036	pathogenic	Exostoses, multiple, type 2	2024-01-29	criteria provided, single submitter	clinical testing	PVS1, PS3, PM2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	RCV001247830	SCV003927806	pathogenic	Exostoses, multiple, type 2	2023-04-01	no assertion criteria provided	clinical testing