ClinVar Miner

Submissions for variant NM_015978.3(TNNI3K):c.2128C>A (p.Pro710Thr)

gnomAD frequency: 0.00004  dbSNP: rs367667018
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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 RCV002180202 SCV002350847 likely benign not provided 2025-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV003289423 SCV004006812 uncertain significance Inborn genetic diseases 2023-03-22 criteria provided, single submitter clinical testing The c.2128C>A (p.P710T) alteration is located in exon 22 (coding exon 22) of the TNNI3K gene. This alteration results from a C to A substitution at nucleotide position 2128, causing the proline (P) at amino acid position 710 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005397297 SCV006058779 uncertain significance Atrial conduction disease 2022-10-26 criteria provided, single submitter research

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