Submissions for variant NM_000518.5(HBB):c.316-1G>T

dbSNP: rs33952266

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000506832	SCV000601281	pathogenic	not provided	2016-12-23	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001078269	SCV001360658	likely pathogenic	beta Thalassemia	2019-08-07	criteria provided, single submitter	clinical testing	Variant summary: HBB c.316-1G>T is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. 5/5 computational tools predict that the variant significantly impacts normal splicing by abolishing a 3' acceptor site. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 251150 control chromosomes (gnomAD). c.316-1G>T has been reported in the literature in individuals affected with Beta Thalassemia (Najmabadi_2002). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted a clinical-significance assessment for this variant to ClinVar (after 2014) and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics	RCV001078269	SCV001244417	pathogenic	beta Thalassemia	2019-11-25	no assertion criteria provided	curation