ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.4823G>A (p.Arg1608His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University RCV002291027 SCV002500019 likely pathogenic Hereditary spherocytosis type 3 2022-03-01 criteria provided, single submitter research
GeneDx RCV004779264 SCV005388982 uncertain significance not provided 2024-03-07 criteria provided, single submitter clinical testing Identified heterozygous in an individual with hereditary spherocytosis, however a second SPTA1 variant was not reported (PMID: 36203343); 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: 32422580, 36203343)

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