ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.1139A>C (p.Tyr380Ser)

gnomAD frequency: 0.00002  dbSNP: rs746024609
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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 RCV001316262 SCV001506871 uncertain significance Transcobalamin II deficiency 2023-08-17 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with serine, which is neutral and polar, at codon 380 of the TCN2 protein (p.Tyr380Ser). This variant is present in population databases (rs746024609, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with TCN2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1017149). 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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