ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.1079del (p.Leu360fs)

dbSNP: rs1600244935
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825546 SCV000966863 likely pathogenic Congenital dyserythropoietic anemia 2018-06-27 criteria provided, single submitter clinical testing The p.Leu360TrpfsX3 variant in SEC23B has not been previously reported in indivi duals with congenital dyserythropoietic anemia and was absent from large populat ion studies. This variant is predicted to cause a frameshift, which alters the p rotein?s amino acid sequence beginning at position 360 and leads to a premature termination codon 3 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Biallelic loss of function of the SEC23 B gene is an established disease mechanism in congenital dyserythropoietic anemi a. In summary, this variant meets our criteria to be classified as likely pathog enic for congenital dyserythropoietic anemia in an autosomal recessive manner ba sed on the predicted impact on the protein and absence from controls. ACMG/AMP C riteria applied: PVS1, PM2.
Invitae RCV003768553 SCV004580859 pathogenic Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2023-06-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu360Trpfs*3) 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). 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: 666985). For these reasons, this variant has been classified as Pathogenic.

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