ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.2074_2077dup (p.Asp693delinsGlyTer)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005026863 SCV005656388 likely pathogenic Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2024-06-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005026863 SCV005867688 pathogenic Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2024-02-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp693Glyfs*2) in the SEC23B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SEC23B are known to be pathogenic (PMID: 19561605, 25044164). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with SEC23B-related conditions. For these reasons, this variant has been classified as Pathogenic.

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