ClinVar Miner

Submissions for variant NM_003193.5(TBCE):c.260A>C (p.Asn87Thr)

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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 RCV002616610 SCV003509444 uncertain significance not provided 2022-06-30 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with threonine, which is neutral and polar, at codon 87 of the TBCE protein (p.Asn87Thr). This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with TBCE-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 RCV004070568 SCV004963172 uncertain significance Inborn genetic diseases 2023-12-19 criteria provided, single submitter clinical testing The c.260A>C (p.N87T) alteration is located in exon 4 (coding exon 3) of the TBCE gene. This alteration results from a A to C substitution at nucleotide position 260, causing the asparagine (N) at amino acid position 87 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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