Submissions for variant NM_000518.5(HBB):c.315+2del

dbSNP: rs1564874813

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000781446	SCV000919482	likely pathogenic	beta Thalassemia	2018-09-03	criteria provided, single submitter	clinical testing	Variant summary: HBB c.315+2delT 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. Several computational tools predict a significant impact on normal splicing: Four predict the variant abolishes a 5 splicing donor site. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 276896 control chromosomes (gnomAD). c.315+2delT has been reported in the literature in an individual affected with Beta Thalassemia (Ma_2000). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics	RCV000781446	SCV001244639	pathogenic	beta Thalassemia	2019-11-25	no assertion criteria provided	curation