ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.576_583delinsA (p.Thr192_Lys193insTer)

dbSNP: rs1555788144
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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 RCV000540391 SCV000637247 pathogenic Congenital dyserythropoietic anemia, type II 2017-08-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys193*) in the SEC23B gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SEC23B-related disease. Loss-of-function variants in SEC23B are known to be pathogenic (PMID: 19561605, 25044164). For these reasons, this variant has been classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV003766993 SCV004582959 pathogenic Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2017-07-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys193*) in the SEC23B gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SEC23B-related disease. Loss-of-function variants in SEC23B are known to be pathogenic (PMID: 19561605, 25044164). For these reasons, this variant has been classified as Pathogenic.

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