ClinVar Miner

Submissions for variant NM_015978.3(TNNI3K):c.290T>G (p.Leu97Arg)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002617724 SCV002954125 uncertain significance not provided 2023-03-24 criteria provided, single submitter clinical testing 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 TNNI3K protein function. This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 97 of the TNNI3K protein (p.Leu97Arg). This variant is present in population databases (rs746891147, 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: 1922747). 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 RCV002634434 SCV003639000 uncertain significance Inborn genetic diseases 2022-09-07 criteria provided, single submitter clinical testing The c.290T>G (p.L97R) alteration is located in exon 4 (coding exon 4) of the TNNI3K gene. This alteration results from a T to G substitution at nucleotide position 290, causing the leucine (L) at amino acid position 97 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003348871 SCV004049409 uncertain significance Atrial conduction disease 2023-04-11 criteria provided, single submitter clinical testing

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