Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Genetic, |
RCV000655910 | SCV000777859 | likely pathogenic | Hereditary spherocytosis type 2 | 2018-02-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001379964 | SCV001577880 | pathogenic | not provided | 2024-01-10 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 23 of the SPTB gene. It does not directly change the encoded amino acid sequence of the SPTB protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with spherocytosis (PMID: 29572776, 31807509; Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 544813). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
Mayo Clinic Laboratories, |
RCV001379964 | SCV001714477 | likely pathogenic | not provided | 2019-12-18 | criteria provided, single submitter | clinical testing | PS4_moderate, PM2, PP3, PP5 |
Revvity Omics, |
RCV001379964 | SCV003815410 | likely pathogenic | not provided | 2022-09-24 | criteria provided, single submitter | clinical testing |