ClinVar Miner

Submissions for variant NM_001032283.3(TMPO):c.565+1611A>C

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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 RCV002609967 SCV002960454 uncertain significance Loeys-Dietz syndrome 2 2022-06-14 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with TMPO-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with histidine, which is basic and polar, at codon 398 of the TMPO protein (p.Asn398His).
Ambry Genetics RCV004065887 SCV005020594 uncertain significance not specified 2024-01-06 criteria provided, single submitter clinical testing The p.N398H variant (also known as c.1192A>C), located in coding exon 4 of the TMPO gene, results from an A to C substitution at nucleotide position 1192. The asparagine at codon 398 is replaced by histidine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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