ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.288G>C (p.Lys96Asn)

dbSNP: rs36038739
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003476893 SCV004219874 uncertain significance not provided 2023-08-21 criteria provided, single submitter clinical testing The HBB c.288G>C (p.Lys96Asn) variant has been reported in the published literature to have oxygen affinity similar to Hb A, along with no changes in cooperativity or in the Bohr effect (PMID: 2513289 (1989)). This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is damaging. Based on the available information, we are unable to determine the clinical significance of this variant.
OMIM RCV000016325 SCV000036593 other HEMOGLOBIN DETROIT 2017-12-12 no assertion criteria provided literature only

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