ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.5C>T (p.Ala2Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002903201 SCV003247886 uncertain significance Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2022-04-11 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SEC23B-related conditions. This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2 of the SEC23B protein (p.Ala2Val). This variant is present in population databases (rs190721221, gnomAD 0.02%). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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