ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.155G>A (p.Arg52Gln)

dbSNP: rs1452760098
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756716 SCV000884606 uncertain significance not provided 2024-04-23 criteria provided, single submitter clinical testing
GeneDx RCV000756716 SCV001986275 uncertain significance not provided 2020-02-04 criteria provided, single submitter clinical testing Identified in patients with hyperbilirubinaemia and elliptocytosis in published literature (Christensen et al., 2014; Agarwal et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 24193021, 27292444)
Mayo Clinic Laboratories, Mayo Clinic RCV000756716 SCV004227307 likely pathogenic not provided 2024-04-11 criteria provided, single submitter clinical testing PM1, PM2_moderate, PM5, PS4_moderate
Revvity Omics, Revvity RCV000756716 SCV004237759 uncertain significance not provided 2023-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000756716 SCV005837270 uncertain significance not provided 2024-10-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 52 of the SPTB protein (p.Arg52Gln). This variant is present in population databases (no rsID available, gnomAD 0.006%). This missense change has been observed in individual(s) with pyropoikilocytosis (PMID: 24193021, 27292444). ClinVar contains an entry for this variant (Variation ID: 618395). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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