Submissions for variant NM_000518.5(HBB):c.126del (p.Phe43fs)

dbSNP: rs35755331

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001053496	SCV001217762	pathogenic	not provided	2019-01-23	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in HBB are known to be pathogenic (PMID: 23637309). This variant has been observed in individuals affected with HBB-related conditions (PMID: 1951306, 19460936). This variant is also described as a deletion of a C nucleotide in codon 41 in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Phe43Leufs*19) in the HBB gene. It is expected to result in an absent or disrupted protein product.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001053496	SCV002046412	pathogenic	not provided	2020-11-12	criteria provided, single submitter	clinical testing	The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Variant was found in at least one symptomatic patient, and not found in general population data.
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics	RCV001078354	SCV001244546	pathogenic	beta Thalassemia	2019-11-25	no assertion criteria provided	curation
Natera, Inc.	RCV001078354	SCV002089225	pathogenic	beta Thalassemia	2017-03-17	no assertion criteria provided	clinical testing