Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| ARUP Laboratories, |
RCV001812372 | SCV001471631 | pathogenic | not provided | 2019-08-18 | criteria provided, single submitter | clinical testing | |
| MVZ Dr. |
RCV001812372 | SCV002499725 | likely pathogenic | not provided | 2021-11-22 | criteria provided, single submitter | clinical testing | The substitution of C to T leads to a premature STOP codon at Arg70. Due to the nonsense mutation and the possibility of nonsense mediated decay, a null variant with loss of function is created in a gene where loss of function is a common mechanism of disease. This variant is absent from controls in Exome Sequencing Project, 1000 Genomes Project and the Genome Aggregation Database. This variant is considered be likely pathogenic according to the ACMG guidelines. |
| Labcorp Genetics |
RCV001812372 | SCV003786998 | pathogenic | not provided | 2023-03-29 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 993595). This premature translational stop signal has been observed in individual(s) with hereditary spherocytosis (PMID: 31122244, 32436265). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg70*) 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). |
| Mayo Clinic Laboratories, |
RCV001812372 | SCV004224594 | likely pathogenic | not provided | 2022-05-31 | criteria provided, single submitter | clinical testing | PM2, PVS1 |
| Prevention |
RCV003908497 | SCV004726542 | pathogenic | SPTB-related disorder | 2024-09-12 | no assertion criteria provided | clinical testing | The SPTB c.208C>T variant is predicted to result in premature protein termination (p.Arg70*). This variant was reported to be causative for autosomal dominant hereditary spherocytosis (Choi et al. 2019. PubMed ID: 31122244; Tole et al. 2020. PubMed ID: 32436265). This variant has not been reported in a large population database, indicating this variant is rare. Nonsense variants in SPTB are expected to be pathogenic. This variant is interpreted as pathogenic. |