ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.2008C>T (p.Arg670Cys)

gnomAD frequency: 0.00002  dbSNP: rs752037101
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001241508 SCV001414531 uncertain significance Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 670 of the SEC23B protein (p.Arg670Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs752037101, ExAC 0.1%). This variant has not been reported in the literature in individuals affected with SEC23B-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C35"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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