ClinVar Miner

Submissions for variant NM_005422.4(TECTA):c.2720G>A (p.Arg907Gln)

gnomAD frequency: 0.00004  dbSNP: rs754174090
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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 RCV001996909 SCV002223927 uncertain significance not provided 2024-10-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 907 of the TECTA protein (p.Arg907Gln). This variant is present in population databases (rs754174090, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with TECTA-related conditions. ClinVar contains an entry for this variant (Variation ID: 1447772). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt TECTA protein function with a negative predictive value of 95%. 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.
GeneDx RCV001996909 SCV005439376 uncertain significance not provided 2024-06-18 criteria provided, single submitter clinical testing Identified in a patient with Li-Fraumeni-like syndrome who also harbored multiple other variants in additional genes in published literature (PMID: 36387164); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 21520338, 31554319, 9590290, 36387164)

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