Submissions for variant NM_015978.3(TNNI3K):c.2297G>C (p.Arg766Pro)

dbSNP: rs201340993

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001900408	SCV002138465	uncertain significance	not provided	2024-09-27	criteria provided, single submitter	clinical testing	This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 766 of the TNNI3K protein (p.Arg766Pro). This variant is present in population databases (rs201340993, gnomAD 0.007%). 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: 1373602). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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	RCV002552741	SCV003702639	uncertain significance	Inborn genetic diseases	2022-09-29	criteria provided, single submitter	clinical testing	The c.2297G>C (p.R766P) alteration is located in exon 23 (coding exon 23) of the TNNI3K gene. This alteration results from a G to C substitution at nucleotide position 2297, causing the arginine (R) at amino acid position 766 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab	RCV003348559	SCV004049442	uncertain significance	Atrial conduction disease	2023-04-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001900408	SCV005433628	likely benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	TNNI3K: BP4, BS1