ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.-137C>G (rs33941377)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000445653 SCV000678114 likely pathogenic beta Thalassemia 2017-06-16 criteria provided, single submitter clinical testing The -87C>G mutation is associated with beta thalassemia.
GeneReviews RCV000445653 SCV000537284 pathogenic beta Thalassemia 2015-05-14 no assertion criteria provided literature only
Integrated Genetics/Laboratory Corporation of America RCV000029951 SCV000052606 pathogenic Beta thalassemia intermedia 2011-08-18 criteria provided, single submitter curation Converted during submission to Pathogenic.
Invitae RCV000507653 SCV000939590 pathogenic not provided 2018-10-01 criteria provided, single submitter clinical testing This variant occurs in a non-coding region of the HBB gene. It does not change the encoded amino acid sequence of the HBB protein. This variant has been observed to segregate with beta-thalassemia in a family and it has been observed as homozygous or in combination with another HBB variant in unrelated individuals affected with this condition (PMID: 2375912, 2446680, 291719). This variant is also known as -87C>G in the literature. ClinVar contains an entry for this variant (Variation ID: 15464). Experimental studies have shown that this non-coding change disrupts nuclear factor binding to the promoter and results in a reduction in HBB gene expression  (PMID: 2837728, 6188062). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000016722 SCV000036992 pathogenic Beta-plus-thalassemia 1982-04-15 no assertion criteria provided literature only
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507653 SCV000601245 pathogenic not provided 2017-04-20 criteria provided, single submitter clinical testing

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