ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.1404+5G>A (rs1555789463)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000638849 SCV000760403 likely pathogenic Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2018-01-17 criteria provided, single submitter clinical testing This sequence change falls in intron 12 of the SEC23B gene. It does not directly change the encoded amino acid sequence of the SEC23B protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has been observed on the opposite chromosome (in trans) from a pathogenic variant in an individual affected with dyserythropoietic anemia (PMID:23453696). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this change leads to the in-frame deletion of exon 12 that results in an unstable transcript (PMID: 23453696). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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