ClinVar Miner

Submissions for variant NM_001032283.3(TMPO):c.565+1662T>G

gnomAD frequency: 0.00001  dbSNP: rs200367787
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001243793 SCV001416976 uncertain significance Loeys-Dietz syndrome 2 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 415 of the TMPO protein (p.Ser415Ala). This variant is present in population databases (rs200367787, gnomAD 0.007%). 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: 968613). 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.
Ambry Genetics RCV004034762 SCV002670332 uncertain significance not specified 2021-09-16 criteria provided, single submitter clinical testing The c.1243T>G (p.S415A) alteration is located in exon 4 (coding exon 4) of the TMPO gene. This alteration results from a T to G substitution at nucleotide position 1243, causing the serine (S) at amino acid position 415 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Dept of Medical Biology, Uskudar University RCV003318398 SCV004022085 uncertain significance Long QT syndrome 2024-01-08 criteria provided, single submitter research Criteria: PM2
CeGaT Center for Human Genetics Tuebingen RCV003393910 SCV004129738 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing TMPO: BP4

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