ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.638C>T (p.Pro213Leu)

dbSNP: rs774581238
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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 RCV001053162 SCV001217409 uncertain significance Transcobalamin II deficiency 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 213 of the TCN2 protein (p.Pro213Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs774581238, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with TCN2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV004031671 SCV004963627 uncertain significance Inborn genetic diseases 2023-12-16 criteria provided, single submitter clinical testing The c.638C>T (p.P213L) alteration is located in exon 5 (coding exon 5) of the TCN2 gene. This alteration results from a C to T substitution at nucleotide position 638, causing the proline (P) at amino acid position 213 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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