ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.1115A>G (p.Tyr372Cys)

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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 RCV002611690 SCV003508369 uncertain significance Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2023-10-18 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 372 of the SEC23B protein (p.Tyr372Cys). This variant is present in population databases (no rsID available, gnomAD 0.009%). 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: 2189614). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SEC23B protein function. 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.
Ambry Genetics RCV003161980 SCV003877633 uncertain significance Inborn genetic diseases 2023-02-16 criteria provided, single submitter clinical testing The c.1115A>G (p.Y372C) alteration is located in exon 10 (coding exon 9) of the SEC23B gene. This alteration results from a A to G substitution at nucleotide position 1115, causing the tyrosine (Y) at amino acid position 372 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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