ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.4973+5G>A

dbSNP: rs1555367789
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetic, Henri Mondor Hospital, Assistance Publique des Hôpitaux de Paris 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, Mayo Clinic RCV001379964 SCV001714477 likely pathogenic not provided 2019-12-18 criteria provided, single submitter clinical testing PS4_moderate, PM2, PP3, PP5
Revvity Omics, Revvity Omics RCV001379964 SCV003815410 likely pathogenic not provided 2022-09-24 criteria provided, single submitter clinical testing

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