ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.230del (p.Ala77fs) (rs281864901)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169256 SCV000220545 likely pathogenic beta Thalassemia 2014-07-23 criteria provided, single submitter literature only
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508493 SCV000601260 pathogenic not provided 2017-06-30 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000169256 SCV000697099 pathogenic beta Thalassemia 2016-08-16 criteria provided, single submitter clinical testing Variant summary: The HBB c.230delC (p.Ala77Valfs) variant results in a premature termination codon, predicted to cause a truncated or absent HBB protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant of interest was found in controls at an allele frequency of 1/121392, which does not exceed the estimated maximal expected allele frequency for a pathogenic HBB variant of 1/89 (0.0111803). The variant of interest has been reported in multiple affected individuals via publications, along with reputable databases/clinical laboratories citing the variant as "pathogenic/likely pathogenic." Therefore, the variant of interest has been classified as Pathogenic.
OMIM RCV000016676 SCV000036946 pathogenic beta^0^ Thalassemia 1992-02-01 no assertion criteria provided literature only
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics RCV000169256 SCV001244483 pathogenic beta Thalassemia 2019-11-25 no assertion criteria provided curation

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