ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.5269C>T (p.Arg1757Cys)

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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 RCV002291028 SCV002500020 likely pathogenic Hereditary spherocytosis type 3 2022-03-01 criteria provided, single submitter research
PreventionGenetics, part of Exact Sciences RCV004548241 SCV004117505 uncertain significance SPTA1-related disorder 2023-05-25 criteria provided, single submitter clinical testing The SPTA1 c.5269C>T variant is predicted to result in the amino acid substitution p.Arg1757Cys. This variant has been reported in an individual with hereditary spherocytosis (Table 2, Wang et al. 2023. PubMed ID: 36203343). This variant is reported in 0.077% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-158606472-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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