Submissions for variant NM_000518.5(HBB):c.64dup (p.Asp22fs)

dbSNP: rs1554918165

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000666440	SCV000790732	likely pathogenic	beta Thalassemia	2017-04-07	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000666440	SCV003929040	likely pathogenic	beta Thalassemia	2023-04-07	criteria provided, single submitter	clinical testing	Variant summary: HBB c.64dupG (p.Asp22GlyfsX2) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251278 control chromosomes (gnomAD). c.64dupG has been reported in the literature in an individual reported as a Beta Thalassemia carrier (Oppenheim_1993). These report(s) do not provide unequivocal conclusions about association of the variant with Beta Thalassemia.Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.
OMIM	RCV002284203	SCV000037093	pathogenic	Beta-thalassemia, Ashkenazi Jewish type	1997-01-01	no assertion criteria provided	literature only
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics	RCV000666440	SCV001244649	pathogenic	beta Thalassemia	2019-11-25	no assertion criteria provided	curation