ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.584dup (p.Leu195fs)

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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 RCV003810541 SCV004610494 pathogenic Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2024-03-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu195Phefs*45) 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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