ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.164_168delinsGGCATCA (p.Val55fs) (rs1564875331)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Unit,National Institute of Biomedical Genomics RCV000722147 SCV000853230 pathogenic beta Thalassemia 2018-11-22 criteria provided, single submitter clinical testing NM_000518.5 (HBB) :c.164_168delTTATGinsGGCATCA was identified in trans with the known pathogenic NM_000518.5 (HBB):c.92+1G>C mutation in a child with HPLC diagnosis of Beta Thalassaemia major. NM_000518.5 (HBB) :c.164_168delTTATGinsGGCATCA mutation was predicted to be pathogenic by Mutation Taster (V55Gfs*8). No data available for this variant in gnomAD Exomes, gnomAD Genomes and ISB Kaviar3. No data available for this variant in ICGC Somatic, Sanger Cosmic, CIViC, IARC TP53 Somatic and IARC TP53 Germline. In summary the NM_000518.5 (HBB) :c.164_168delTTATGinsGGCATCA variant meets the ACMG criteria to be classified as pathogenic (PVS1; PM2; PM3) based on segregation studies, absence from control and predicted truncated protein product.

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