ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.816del (p.Ile272fs)

dbSNP: rs1568606490
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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 RCV000703264 SCV000832159 pathogenic Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2023-08-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile272Metfs*37) 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 not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 579876). This variant has not been reported in the literature in individuals affected with SEC23B-related conditions.

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