Submissions for variant NM_001063.4(TF):c.1623-63del

gnomAD frequency: 0.01085  dbSNP: rs8177291

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Mendelics	RCV002249558	SCV002516697	benign	not specified	2022-05-04	criteria provided, single submitter	clinical testing
Biochemistry Laboratory, Bechir Hamza Children's Hospital	RCV000856821	SCV000998940	likely pathogenic	Atransferrinemia	2019-11-14	no assertion criteria provided	research	The NC_000003.12:g.133770445del (ENST00000461695.1:c.293-63del) genetic variant has been reported in a 6-month-old girl, born of second degree consanguineous parents from Southern Tunisia in homozygous state. The history of the disease goes back to the neonatal period when the proband had been suffering from severe hypochromic anemia. The absence of the detected novel substitution in the general Tunisian population was verified by investigating a group of many healthy unrelated control individuals. Additionally, in silico studies indicate that this deletion is predicted to generate a higher score cryptic branch point leading to the production of an altered mRNA molecule. In summary, This intronic variant meets our criteria to be classified as Likely pathogenic based upon bioinformatics analyses, absence from controls, and conservation of wild type allele across various vertebrate species .