ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.109C>T (p.His37Tyr)

gnomAD frequency: 0.00001  dbSNP: rs1326813642
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000796813 SCV000936341 uncertain significance Transcobalamin II deficiency 2021-06-06 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. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with TCN2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with tyrosine at codon 37 of the TCN2 protein (p.His37Tyr). The histidine residue is weakly conserved and there is a moderate physicochemical difference between histidine and tyrosine.
Ambry Genetics RCV002534610 SCV003529557 uncertain significance Inborn genetic diseases 2021-10-12 criteria provided, single submitter clinical testing The c.109C>T (p.H37Y) alteration is located in exon 2 (coding exon 2) of the TCN2 gene. This alteration results from a C to T substitution at nucleotide position 109, causing the histidine (H) at amino acid position 37 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV000796813 SCV003835926 uncertain significance Transcobalamin II deficiency 2022-10-22 criteria provided, single submitter clinical testing

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