ClinVar Miner

Submissions for variant NM_000518.4(HBB):c.232C>T (p.His78Tyr) (rs33991294)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001286646 SCV001473254 uncertain significance none provided 2019-07-25 criteria provided, single submitter clinical testing The Hb Fukuyama variant (HBB: c.232C>T; p.His78Tyr, also known as His77Tyr when numbered from the mature protein, rs33991294) is reported in the literature in several heterozygous individuals without clinical symptoms (HbVar database and references therein). This variant is found on a single chromosome (1/251428 alleles) in the Genome Aggregation Database. The histidine at codon 78 is weakly conserved, but computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious, and functional assays suggest the variant is mildly unstable (HbVar database and references therein). However, due to limited information, the clinical significance of the Hb Fukuyama variant is uncertain at this time. References: HbVar link to Hb Fukuyama: http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=394
OMIM RCV000016340 SCV000036608 other HEMOGLOBIN FUKUYAMA 2017-12-12 no assertion criteria provided literature only

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