ClinVar Miner

Submissions for variant NM_015978.3(TNNI3K):c.175A>G (p.Asn59Asp)

gnomAD frequency: 0.00001  dbSNP: rs780477698
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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 RCV002029272 SCV002305487 uncertain significance not provided 2024-04-04 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 59 of the TNNI3K protein (p.Asn59Asp). This variant is present in population databases (rs780477698, 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: 1514392). 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 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 RCV002548797 SCV003554775 uncertain significance Inborn genetic diseases 2024-11-08 criteria provided, single submitter clinical testing The c.175A>G (p.N59D) alteration is located in exon 3 (coding exon 3) of the TNNI3K gene. This alteration results from a A to G substitution at nucleotide position 175, causing the asparagine (N) at amino acid position 59 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003348763 SCV004049406 uncertain significance Atrial conduction disease 2023-04-11 criteria provided, single submitter clinical testing

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