ClinVar Miner

Submissions for variant NM_001062.4(TCN1):c.9G>T (p.Gln3His)

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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 RCV002970593 SCV003279555 uncertain significance Transcobalamin I deficiency 2022-03-16 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. This variant has not been reported in the literature in individuals affected with TCN1-related conditions. This variant is present in population databases (rs139361825, gnomAD 0.01%). This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 3 of the TCN1 protein (p.Gln3His).
Ambry Genetics RCV004068147 SCV004963620 uncertain significance not specified 2023-11-27 criteria provided, single submitter clinical testing The c.9G>T (p.Q3H) alteration is located in exon 1 (coding exon 1) of the TCN1 gene. This alteration results from a G to T substitution at nucleotide position 9, causing the glutamine (Q) at amino acid position 3 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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