ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.384G>A (p.Leu128=)

gnomAD frequency: 0.00001  dbSNP: rs373130533
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000036288 SCV000059940 likely benign not specified 2010-05-03 criteria provided, single submitter clinical testing The Leu128Leu variant is not expected to have clinical significance because it d oes not alter an amino acid residue and is not located near a splice junction. H owever, on rare occasions, base changes that do not result in amino acid changes can be associated with disease.
GeneDx RCV000456837 SCV000522494 likely benign not provided 2018-09-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 20474083)
Labcorp Genetics (formerly Invitae), Labcorp RCV001082499 SCV000562161 likely benign Hypertrophic cardiomyopathy 2023-11-27 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769527 SCV000900922 likely benign Cardiomyopathy 2022-04-04 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000769527 SCV001355067 likely benign Cardiomyopathy 2019-12-09 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001082499 SCV004819064 likely benign Hypertrophic cardiomyopathy 2023-12-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004018789 SCV005034860 uncertain significance Cardiovascular phenotype 2024-02-20 criteria provided, single submitter clinical testing The c.384G>A variant (also known as p.L128L), located in coding exon 7 of the TNNI3 gene, results from a G to A substitution at nucleotide position 384. This nucleotide substitution does not change the leucine at codon 128. This variant has been detected in a hypertrophic cardiomyopathy genetic testing cohort; however, details were limited (Alfares AA et al. Genet Med. 2015 Nov;17(11):880-8). This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.

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