ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.855T>A (p.Asn285Lys)

gnomAD frequency: 0.00008  dbSNP: rs376839271
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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 RCV001065072 SCV001230011 uncertain significance Transcobalamin II deficiency 2022-10-26 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 285 of the TCN2 protein (p.Asn285Lys). This variant is present in population databases (rs376839271, gnomAD 0.07%). This missense change has been observed in individual(s) with cobalamin deficiency (PMID: 27155006). ClinVar contains an entry for this variant (Variation ID: 859052). 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 TCN2 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.

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