ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.1084G>C (p.Ala362Pro)

gnomAD frequency: 0.00001  dbSNP: rs1237571997
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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 RCV001934074 SCV002212958 uncertain significance Transcobalamin II deficiency 2022-10-24 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 1437693). This variant has not been reported in the literature in individuals affected with TCN2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 362 of the TCN2 protein (p.Ala362Pro).

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