ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.59A>G (p.Asn20Ser) (rs33972047)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000020338 SCV000040714 pathogenic beta Thalassemia 2015-05-14 no assertion criteria provided literature only
Integrated Genetics/Laboratory Corporation of America RCV000020338 SCV000697141 pathogenic beta Thalassemia 2017-03-20 criteria provided, single submitter clinical testing Variant summary: The HBB c.59A>G (p.Asn20Ser) variant involves the alteration of a conserved nucleotide. 3/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). 5/5 splice prediction tools predict that this variant strengthens a cryptic 5' splicing donor site and affects normal splicing. This prediction has been confirmed by at least one functional study (Gonzalez-Redondo_1989). This variant has been found in multiple patients with beta thalassemia (Yang_1989 and Rujito_2015) and is absent in 121362 control chromosomes. In addition, multiple reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
OMIM RCV000016479 SCV000036747 other HEMOGLOBIN MALAY 2017-12-12 no assertion criteria provided literature only
OMIM RCV000016480 SCV000036748 pathogenic Beta-plus-thalassemia 1989-05-01 no assertion criteria provided literature only
OMIM RCV000016481 SCV000036749 pathogenic Beta-malay-thalassemia 1989-05-01 no assertion criteria provided literature only
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508637 SCV000605846 pathogenic not provided 2017-06-30 criteria provided, single submitter clinical testing

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