ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.102G>C (p.Leu34Phe)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002893648 SCV003647479 uncertain significance Inborn genetic diseases 2022-10-27 criteria provided, single submitter clinical testing The c.102G>C (p.L34F) alteration is located in exon 2 (coding exon 2) of the TCN2 gene. This alteration results from a G to C substitution at nucleotide position 102, causing the leucine (L) at amino acid position 34 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003495313 SCV004273770 uncertain significance Transcobalamin II deficiency 2023-01-15 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. This variant has not been reported in the literature in individuals affected with TCN2-related conditions. This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 34 of the TCN2 protein (p.Leu34Phe).

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