ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.316-238C>T (rs558554234)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000248556 SCV000304633 likely benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000248556 SCV000603924 likely benign not specified 2018-11-05 criteria provided, single submitter clinical testing The HBB c.316-238C>T variant (rs558554234), also known as IVS-II-613 C>T, has been reported in one individual with beta-thalassemia (Shaji 2003). However, it is also found in the general population with an allele frequency of 2% in South Asians (1000 Genomes Project). This is an intronic variant at a weakly conserved nucleotide, and computational analyses (Alamut v2.11) do not predict this variant to impact splicing. Based on available information, this variant is considered to be likely benign. References: Shaji RV et al. Rapid detection of beta-globin gene mutations and polymorphisms by temporal temperature gradient gel electrophoresis. Clin Chem. 2003 May;49(5):777-81.
Invitae RCV000864684 SCV001005519 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Hb Lab, Kinderklinik Ulm,University Hospital Ulm RCV000625739 SCV000693863 pathogenic beta Thalassemia 2018-03-08 no assertion criteria provided literature only Rare thalassemic variant that could cause severe Thalassemia (Major or intermedia) when associated with other more common beta0 thalassemic alleles.

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