ClinVar Miner

Submissions for variant NM_001032283.3(TMPO):c.565+2488G>A

gnomAD frequency: 0.00001  dbSNP: rs779219922
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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 RCV001927268 SCV002161796 uncertain significance Loeys-Dietz syndrome 2 2021-07-31 criteria provided, single submitter clinical testing 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 present in population databases (rs779219922, ExAC 0.02%). This sequence change replaces arginine with histidine at codon 690 of the TMPO protein (p.Arg690His). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and histidine. 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 RCV004041500 SCV002725662 uncertain significance not specified 2023-05-18 criteria provided, single submitter clinical testing The c.2069G>A (p.R690H) alteration is located in exon 4 (coding exon 4) of the TMPO gene. This alteration results from a G to A substitution at nucleotide position 2069, causing the arginine (R) at amino acid position 690 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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