ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.1603C>T (p.Arg535Ter)

gnomAD frequency: 0.00002  dbSNP: rs201921350
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001894286 SCV002124137 pathogenic Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2021-09-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg535*) 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 (rs201921350, ExAC 0.01%). This premature translational stop signal has been observed in individual(s) with congenital dyserythropoietic anemia Type II (PMID: 20941788). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001894286 SCV005656386 pathogenic Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2024-05-07 criteria provided, single submitter clinical testing

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