Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Mayo Clinic Laboratories, |
RCV001508729 | SCV001715075 | pathogenic | not provided | 2023-10-03 | criteria provided, single submitter | clinical testing | |
| Revvity Omics, |
RCV001508729 | SCV002021954 | pathogenic | not provided | 2023-12-27 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001508729 | SCV002185957 | pathogenic | not provided | 2024-11-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg638*) in the SPTB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SPTB are known to be pathogenic (PMID: 1391962, 1498324, 8844207, 26830532, 27292444). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with hereditary spherocytosis (PMID: 30486584, 31602632). ClinVar contains an entry for this variant (Variation ID: 1163553). For these reasons, this variant has been classified as Pathogenic. |
| ARUP Laboratories, |
RCV001508729 | SCV005875435 | pathogenic | not provided | 2024-05-28 | criteria provided, single submitter | clinical testing | The SPTB c.1912C>T; p.Arg638Ter variant (rs213959630) is reported in the literature in individuals affected with hereditary spherocytosis (Aggarwal 2020, Peng 2018, Qin 2020, Tole 2020, Wang 2021). This variant is also reported in ClinVar (Variation ID: 1163553). This variant is absent from 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: Aggarwal A et al. Deciphering molecular heterogeneity of Indian families with hereditary spherocytosis using targeted next-generation sequencing: First South Asian study. Br J Haematol. 2020 Mar. PMID: 31602632. Peng GX et al. [The characteristic of hereditary spherocytosis related gene mutation in 37 Chinese hereditary spherocytisis patients]. Zhonghua Xue Ye Xue Za Zhi. 2018 Nov 14. PMID: 30486584. Qin L et al. Identification of new mutations in patients with hereditary spherocytosis by next-generation sequencing. J Hum Genet. 2020 Apr. PMID: 31980736. Tole S et al. Genotype-phenotype correlation in children with hereditary spherocytosis. Br J Haematol. 2020 Nov. PMID: 32436265. Wang D et al. Mutational Characteristics of Causative Genes in Chinese Hereditary Spherocytosis Patients: a Report on Fourteen Cases and a Review of the Literature. Front Pharmacol. 2021 PMID: 34335240. |
| Clinical Laboratory Sciences Program |
RCV003326582 | SCV003927877 | pathogenic | Hereditary spherocytosis type 2 | 2023-04-01 | no assertion criteria provided | clinical testing |