ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.2262del (p.Phe754fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003783747 SCV004571420 likely pathogenic Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2023-02-06 criteria provided, single submitter clinical testing 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. This variant disrupts a region of the SEC23B protein in which other variant(s) (p.His747Pro) have been observed in individuals with SEC23B-related conditions (PMID: 20941788). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This premature translational stop signal has been observed in individuals with congenital dyserythropoietic anemia, type II (PMID: 27471141). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Phe754Leufs*5) in the SEC23B gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 14 amino acid(s) of the SEC23B protein.

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