ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.6256G>A (p.Ala2086Thr)

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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 RCV003046560 SCV003333548 uncertain significance Imerslund-Grasbeck syndrome 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 2086 of the CUBN protein (p.Ala2086Thr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CUBN-related conditions. 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 expected to disrupt CUBN 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 RCV003032760 SCV003623088 uncertain significance Inborn genetic diseases 2022-05-25 criteria provided, single submitter clinical testing The c.6256G>A (p.A2086T) alteration is located in exon 41 (coding exon 41) of the CUBN gene. This alteration results from a G to A substitution at nucleotide position 6256, causing the alanine (A) at amino acid position 2086 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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