ClinVar Miner

Submissions for variant NM_000518.4(HBB):c.157G>C (p.Asp53His) (rs33961886)

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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 RCV000506716 SCV000603922 uncertain significance not specified 2018-10-11 criteria provided, single submitter clinical testing The Hb Summer Hill variant (c.157G>C, Asp52His) has been observed in a sample submitted for thalassemia/hemoglobinopathy screening (Turner 2016), but it is reported to be functionally equivalent to Hb A and is not associated with significant clinical symptoms (HbVar database and references therein). However, its phenotype when found with other globin variants is unknown. It is listed in the dbSNP variant database (rs33961886), but not observed in the general population databases (1000 Genomes Project, Exome Variant Server, Exome Aggregation Consortium). The aspartate at residue 52 is weakly conserved, but computational algorithms (Align GVGD, Mutation Taster, PolyPhen-2, SIFT) are inconclusive on the variant's impact on the protein. Due to the limited information regarding this variant, its clinical significance is uncertain. References: Link to HbVar database for Hb Summer Hill: http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=336 Turner A et al. Rapid detection of pathological mutations and deletions of the haemoglobin beta gene (HBB) by High Resolution Melting (HRM) analysis and Gene Ratio Analysis Copy Enumeration PCR (GRACE-PCR). BMC Med Genet. 2016 Oct 19;17(1):75.
OMIM RCV000016613 SCV000036882 other HEMOGLOBIN SUMMER HILL 2017-12-12 no assertion criteria provided literature only

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