ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.104582G>A (p.Arg34861His)

gnomAD frequency: 0.00001  dbSNP: rs777774818
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533196 SCV000642560 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002404463 SCV002669945 uncertain significance Cardiovascular phenotype 2019-03-28 criteria provided, single submitter clinical testing The p.R25796H variant (also known as c.77387G>A), located in coding exon 185 of the TTN gene, results from a G to A substitution at nucleotide position 77387. The arginine at codon 25796 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and 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.
Fulgent Genetics, Fulgent Genetics RCV002483428 SCV002786007 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 2021-08-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437259 SCV004150177 uncertain significance not provided 2023-08-01 criteria provided, single submitter clinical testing TTN: PM2, BP4

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