ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.46409G>A (p.Arg15470His)

gnomAD frequency: 0.00002  dbSNP: rs769044716
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000184547 SCV000237202 uncertain significance not provided 2018-01-16 criteria provided, single submitter clinical testing The R13829H variant of uncertain significance in the TTN gene has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. However, the R13829H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Furthermore, this is a missense variant in a gene in which most reported pathogenic variants associated with cardiomyopathy are truncating/loss-of-function (Stenson et al., 2014). Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
Ambry Genetics RCV000621375 SCV000735920 uncertain significance Cardiovascular phenotype 2017-07-13 criteria provided, single submitter clinical testing The p.R6405H variant (also known as c.19214G>A), located in coding exon 76 of the TTN gene, results from a G to A substitution at nucleotide position 19214. The arginine at codon 6405 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV000184547 SCV001246178 uncertain significance not provided 2022-05-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000184547 SCV004237433 uncertain significance not provided 2023-06-05 criteria provided, single submitter clinical testing

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