ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.871G>A (p.Gly291Ser)

gnomAD frequency: 0.00026  dbSNP: rs143599352
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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 RCV001810559 SCV001474180 uncertain significance not provided 2020-04-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV001336807 SCV001530304 uncertain significance Elliptocytosis 3 2018-08-22 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001810559 SCV002574143 uncertain significance not provided 2022-03-18 criteria provided, single submitter clinical testing Reported heterozygous in a patient in published literature with a clinical suspicion of a hereditary red blood cell defect, but detailed clinical and segregation information were not provided (Andolfo et al., 2021); 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: 34201899)
Revvity Omics, Revvity RCV001810559 SCV003822722 uncertain significance not provided 2022-06-30 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001810559 SCV004227302 uncertain significance not provided 2022-12-28 criteria provided, single submitter clinical testing

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