ClinVar Miner

Submissions for variant NM_001032283.3(TMPO):c.565+1968G>A

gnomAD frequency: 0.00001  dbSNP: rs1051007448
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852684 SCV000995393 likely benign Hypertrophic cardiomyopathy 2017-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004029272 SCV002705144 uncertain significance not specified 2023-07-10 criteria provided, single submitter clinical testing The c.1549G>A (p.A517T) 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 1549, causing the alanine (A) at amino acid position 517 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002538868 SCV003255987 uncertain significance Loeys-Dietz syndrome 2 2023-12-09 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 517 of the TMPO protein (p.Ala517Thr). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with TMPO-related conditions. ClinVar contains an entry for this variant (Variation ID: 691729). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TMPO protein function with a negative predictive value of 80%. 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.

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