ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.614G>C (p.Gly205Ala)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003080916 SCV003487059 uncertain significance Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2022-07-11 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 205 of the SEC23B protein (p.Gly205Ala). This variant is present in population databases (rs762101557, gnomAD 0.01%). 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 (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.
Mayo Clinic Laboratories, Mayo Clinic RCV003481393 SCV004225466 uncertain significance not provided 2022-05-02 criteria provided, single submitter clinical testing PM2
Ambry Genetics RCV004961051 SCV005502522 uncertain significance Inborn genetic diseases 2024-09-11 criteria provided, single submitter clinical testing The c.614G>C (p.G205A) alteration is located in exon 6 (coding exon 5) of the SEC23B gene. This alteration results from a G to C substitution at nucleotide position 614, causing the glycine (G) at amino acid position 205 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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