ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.1233+4C>T

gnomAD frequency: 0.00040  dbSNP: rs201883785
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000810030 SCV000950216 uncertain significance Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2022-08-31 criteria provided, single submitter clinical testing This sequence change falls in intron 10 of the SEC23B gene. It does not directly change the encoded amino acid sequence of the SEC23B protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs201883785, gnomAD 0.1%). This variant has been observed in individual(s) with dyserythropoietic anemia type 2 (PMID: 34201899). ClinVar contains an entry for this variant (Variation ID: 654136). 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 is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mayo Clinic Laboratories, Mayo Clinic RCV001509051 SCV001715553 uncertain significance not provided 2020-11-03 criteria provided, single submitter clinical testing

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