ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.179A>C (p.Lys60Thr) (rs35537181)

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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 RCV000757367 SCV000885561 uncertain significance not provided 2018-05-30 criteria provided, single submitter clinical testing The Hb J-Honolulu variant (HBB: c.179A>C; Lys59Thr) (rs35537181), also known as Hb J Kaohsiung, is a structural hemoglobin variant that has been reported in the heterozygous state in several asymptomatic individuals with normal hematological parameters (see link to HbVar, Blackwell 1972, Lou 2014). However, it is unknown what clinical effect this variant has when found to co-occur with a different pathogenic HBB variant on the opposite chromosome. This variant contains an entry in ClinVar (Variation ID: 15222) and is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. The lysine at codon 59 is highly conserved, and computational algorithms (PolyPhen-2, SIFT) predict that this variant is deleterious. However, several additional variants have been described in the heterozygous state in asymptomatic individuals (see link to HbVar and references therein). Due to limited information regarding this variant, its clinical significance cannot be determined with certainty. References: HbVar: http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=348&.cgifields=histD Blackwell R et al. Fast haemoglobin variant found in Hawaiian-Chinese-Caucasian family in Hawaii and a Chinese subject in taiwan. Vox Sang. 1972;22(5):469-73. Lou J et al. Prevalence and molecular characterization of structural hemoglobin variants in the Dongguan region of Guangdong province, southern China. Hemoglobin. 2014;38(4):282-6.
OMIM RCV000016418 SCV000036686 pathogenic not specified 1972-01-01 no assertion criteria provided literature only

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