ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.82687C>T (p.Arg27563Cys)

gnomAD frequency: 0.00001  dbSNP: rs72648214
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176790 SCV000228511 uncertain significance not provided 2014-06-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345606 SCV002648789 uncertain significance Cardiovascular phenotype 2019-02-21 criteria provided, single submitter clinical testing The p.R18498C variant (also known as c.55492C>T), located in coding exon 153 of the TTN gene, results from a C to T substitution at nucleotide position 55492. The arginine at codon 18498 is replaced by cysteine, an amino acid with highly dissimilar properties. This variant was reported (as NM_001267550.1:c.82687C>T p.R27564C) in an individual with dilated cardiomyopathy (DCM); however, the individual also had an additional TTN variant and clinical details were limited (Begay RL et al. J Am Heart Assoc, 2015 Nov;4:[Epub ahead of print]). This amino acid position is well conserved in available 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 RCV002492764 SCV002778756 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 2021-10-19 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000176790 SCV003824932 uncertain significance not provided 2019-11-25 criteria provided, single submitter clinical testing

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