ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.892C>T (p.His298Tyr)

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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 RCV002636813 SCV003508245 uncertain significance Transcobalamin II deficiency 2022-04-12 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 298 of the TCN2 protein (p.His298Tyr). This variant is present in population databases (rs769224521, gnomAD 0.004%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV002607405 SCV003673160 uncertain significance Inborn genetic diseases 2022-12-13 criteria provided, single submitter clinical testing The c.892C>T (p.H298Y) alteration is located in exon 6 (coding exon 6) of the TCN2 gene. This alteration results from a C to T substitution at nucleotide position 892, causing the histidine (H) at amino acid position 298 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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