Submissions for variant NM_000518.5(HBB):c.30dup (p.Ala11fs)

dbSNP: rs34548294

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001078422	SCV001361821	pathogenic	beta Thalassemia	2022-08-08	criteria provided, single submitter	clinical testing	Variant summary: HBB c.30dupT (p.Ala11CysfsX13) 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 251216 control chromosomes (gnomAD). c.30dupT has been reported in the literature in multiple homozygous and compound heterozygous individuals affected with Beta Thalassemia (e.g. Filon_1995, Ulasli_2015, Unal_2015, Gunes_2021). These data indicate that the variant is very likely to be associated with disease. Two ClinVar submitters (evaluation after 2014) cite the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Clinical Genetics and Genomics, Karolinska University Hospital	RCV001269760	SCV001450003	pathogenic	not provided	2017-10-18	criteria provided, single submitter	clinical testing
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics	RCV001078422	SCV001244633	pathogenic	beta Thalassemia	2019-11-25	no assertion criteria provided	curation