ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.367C>T (p.Arg123Ter)

gnomAD frequency: 0.00003  dbSNP: rs775380378
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002250341 SCV002519711 pathogenic Congenital dyserythropoietic anemia, type II 2022-05-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481053 SCV002799362 pathogenic Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2022-02-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002481053 SCV004568815 pathogenic Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2023-08-23 criteria provided, single submitter clinical testing This variant is present in population databases (rs775380378, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Arg123*) 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 premature translational stop signal has been observed in individual(s) with congenital dyserythropoietic anemia type II (PMID: 20941788, 22208203). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1686174).

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