ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.1660del (p.Arg554fs)

dbSNP: rs781770571
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003133962 SCV003812706 likely pathogenic not provided 2022-06-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003778725 SCV004583892 pathogenic Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2023-12-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg554Aspfs*33) 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 (rs781770571, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with SEC23B-related conditions. ClinVar contains an entry for this variant (Variation ID: 2433272). For these reasons, this variant has been classified as Pathogenic.

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