ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.-80T>A (rs33980857)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000029962 SCV000537289 pathogenic beta Thalassemia 2015-05-14 no assertion criteria provided literature only
Integrated Genetics/Laboratory Corporation of America RCV000029962 SCV000052617 pathogenic beta Thalassemia 2011-08-18 criteria provided, single submitter curation Converted during submission to Pathogenic.
Invitae RCV000508486 SCV000941728 likely pathogenic not provided 2018-09-06 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. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has been observed on the opposite chromosome (in trans) from a pathogenic variant in an individual affected with Lepore-beta thalassemia (PMID: 3382401). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. This variant has also been seen in several compound heterozygote and homozygous individuals affected with beta thalassemia (PMID: 1487424, 1917531, 3382401, 20854126). This variant is known as -30 T>A in the literature. ClinVar contains an entry for this variant (Variation ID: 15467). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000016725 SCV000036995 pathogenic Beta-plus-thalassemia 1992-01-01 no assertion criteria provided literature only
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508486 SCV000601320 pathogenic not provided 2017-04-20 criteria provided, single submitter clinical testing

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