ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.1083del (p.Ser362fs) (rs1555524354)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatrics,Hirosaki University Graduate School of Medicine RCV000677307 SCV000786665 pathogenic Diamond-Blackfan anemia 2018-05-14 no assertion criteria provided research The heterozygous protein-truncating mutations in TP53 (c.1083delG, p.Ser362AlafsX8) was detected in a patient presented with congenital hypoplastic anemia, hypogammaglobulinemia, growth retardation, microcephally and mental retardation. The variant resulted in the loss of 32 residues from the C-terminal domain (CTD). Luciferase assay using the promoter of CDKN1A showed the p53 mutant had augmented transcriptional activities. When expressed in zebrafish and human-induced pluripotent stem cells, we observed impaired erythrocyte production. The patient shared several phenotypes with the knock-in mice expressing CTD-truncated p53, including bone marrow failure, microcephaly and severe growth retardation (Simeonova 2013, Hamard 2013). These findings demonstrate that the CTD-truncation mutations of TP53 cause a novel inherited bone marrow failure syndrome.
OMIM RCV000714961 SCV000845726 pathogenic BONE MARROW FAILURE SYNDROME 5 2018-10-31 no assertion criteria provided literature only

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