ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.90C>T (p.Gly30=) (rs35578002)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000588766 SCV000697153 pathogenic beta Thalassemia 2016-12-07 criteria provided, single submitter clinical testing Variant summary: The HBB c.90C>T (p.Gly30Gly) variant involves the alteration of a conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 4/5 splice prediction tools predict that this varaint may create a novel 5' splicing donor site and a frameshift change. However, these predictions have yet to be confirmed by functional studies. This variant was found in 1/121334 control chromosomes at a frequency of 0.0000082, which does not exceed the estimated maximal expected allele frequency of a pathogenic HBB variant (0.0111803). However, this variant has been reported as a mild beta+ type mutation in numerous patients with beta thalassemia intermedia in homozygous and compound heterozygous states. Ithanet lists variant as a globin gene causative mutation. Taken together, this variant is classified as pathogenic.
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics RCV000588766 SCV001244430 pathogenic beta Thalassemia 2019-11-25 no assertion criteria provided curation

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