ClinVar Miner

Submissions for variant NM_015978.3(TNNI3K):c.1526A>T (p.Glu509Val)

gnomAD frequency: 0.00001  dbSNP: rs760008465
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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 RCV001968799 SCV002255852 uncertain significance not provided 2023-12-05 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 509 of the TNNI3K protein (p.Glu509Val). This variant is present in population databases (rs760008465, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with TNNI3K-related conditions. ClinVar contains an entry for this variant (Variation ID: 1468043). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on TNNI3K protein function. 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.
Center for Computational Biology & Bioinformatics, University of California, San Diego RCV004571849 SCV005050098 uncertain significance Meniere disease 2024-06-03 no assertion criteria provided research

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