ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.43316G>A (p.Arg14439His)

gnomAD frequency: 0.00003  dbSNP: rs764117439
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000400294 SCV000423343 uncertain significance Early-onset myopathy with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000305614 SCV000423344 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000341766 SCV000423345 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000392186 SCV000423346 uncertain significance Tibial muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000302027 SCV000423347 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000365954 SCV000423348 uncertain significance Myopathy, myofibrillar, 9, with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002392890 SCV002703150 uncertain significance Cardiovascular phenotype 2018-09-29 criteria provided, single submitter clinical testing The p.R5374H variant (also known as c.16121G>A), located in coding exon 62 of the TTN gene, results from a G to A substitution at nucleotide position 16121. The arginine at codon 5374 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, histidine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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