ClinVar Miner

Submissions for variant NM_000518.4(HBB):c.83C>T (p.Ala28Val)

gnomAD frequency: 0.00001  dbSNP: rs33954632
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003441719 SCV004168258 uncertain significance not provided 2023-03-24 criteria provided, single submitter clinical testing Identified in the heterozygous state in a family with erythrocytosis (Baklouti et al., 1987); Observed in cis with another HBB variant and with an -globin gene triplication in a family with thalassemia intermedia, anemia, and splenomegaly (Dipanwita Das et al., 2013); In silico analysis supports that this missense variant does not alter protein structure/function; Also known as Hb Grange-Blanche [27(B9) Ala>Val]; This variant is associated with the following publications: (PMID: 3666141, Das2013[article], 25332589, 17949282, 3955238)
OMIM RCV000016364 SCV000036632 other HEMOGLOBIN GRANGE-BLANCHE 2017-12-12 no assertion criteria provided literature only

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