ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.910C>T (p.Arg304Ter)

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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 RCV002291022 SCV002500012 pathogenic Hereditary spherocytosis type 4 2022-03-01 criteria provided, single submitter research
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV005232912 SCV005878007 pathogenic not provided 2024-04-02 criteria provided, single submitter clinical testing The SLC4A1 c.910C>T; p.Arg304Ter variant (rs757158425) is reported in the literature in one individual affected with spherocytosis (Wang 2023). This variant is also reported in ClinVar (Variation ID: 1676959). This variant is only observed on one allele in the Genome Aggregation Database, indicating it is not a common polymorphism. This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic. References: Wang WJ et al. Identification of variants in 94 Chinese patients with hereditary spherocytosis by next-generation sequencing. Clin Genet. 2023 Jan. PMID: 36203343.

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