ClinVar Miner

Submissions for variant NM_000558.5(HBA1):c.150C>A (p.Ser50Arg)

dbSNP: rs1318437795
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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 RCV001812287 SCV001470867 uncertain significance not provided 2019-09-27 criteria provided, single submitter clinical testing The HBA1 c.150C>A; p.Ser50Arg variant (also known as Ser49Arg when numbered from the mature protein; rs1318437795) to our knowledge, is not reported in the medical literature or gene-specific databases. Two other variants that cause the same amino acid substitution in HBA2 (c.148A>C, c.150C>A) have been reported in heterozygous individuals without clinical symptoms, with the variant protein exhibiting normal stability and oxygen affinity (Tran Houangkeo 2016, HbVar link and references therein). The HBA1 c.150C>A variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The serine at codon 50 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious, although these are low confidence predictions. Due to limited information, the clinical significance of the HBA1 c.150C>A; p.Ser50Arg variant is uncertain at this time. References: HbVar link for HBA2 c.150C>A: http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=70 Tran Houangkeo TH et al. Hb Savaria [a49(CE7)Ser>Arg; HBA2: c.150C > A]: A New Case and Complete Description. Hemoglobin. 2016 Aug;40(4):267-9.
Natera, Inc. RCV001830080 SCV002093860 uncertain significance alpha Thalassemia 2020-12-03 no assertion criteria provided clinical testing

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