ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.6959G>A (p.Arg2320His)

gnomAD frequency: 0.00008  dbSNP: rs374615369
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000171324 SCV000221521 likely pathogenic not provided criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000473786 SCV000542788 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-05-23 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001253714 SCV001429565 uncertain significance Dilated cardiomyopathy 1G 2017-02-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002362875 SCV002664731 uncertain significance Cardiovascular phenotype 2019-07-30 criteria provided, single submitter clinical testing The p.R2274H variant (also known as c.6821G>A), located in coding exon 28 of the TTN gene, results from a G to A substitution at nucleotide position 6821. The arginine at codon 2274 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.
Fulgent Genetics, Fulgent Genetics RCV002498857 SCV002776870 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-11-05 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000171324 SCV003825495 uncertain significance not provided 2021-11-25 criteria provided, single submitter clinical testing

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