ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.84466G>C (p.Gly28156Arg)

gnomAD frequency: 0.00009  dbSNP: rs763560084
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724864 SCV000228524 uncertain significance not provided 2015-06-03 criteria provided, single submitter clinical testing
GeneDx RCV000259192 SCV000237654 uncertain significance not specified 2014-03-14 criteria provided, single submitter clinical testing Missense variants in the TTN gene are considered 'unclassified' if they are not previously reported in the literature and do not have >1% frequency in the population to be considered a polymorphism. Research indicates that truncating mutations in the TTN gene are expected to account for approximately 25% of familial and 18% of sporadic idiopathic DCM; however, truncating variants in the TTN gene have been reported in approximately 3% of reported control alleles. There has been little investigation into non-truncating variants. (Herman D et al. Truncations of titin causing dilated cardiomyopathy. N Eng J Med 366:619-628, 2012) The variant is found in CARDIOMYOPATHY panel(s).
Ambry Genetics RCV000618737 SCV000736654 uncertain significance Cardiovascular phenotype 2018-02-15 criteria provided, single submitter clinical testing The p.G19091R variant (also known as c.57271G>C), located in coding exon 153 of the TTN gene, results from a G to C substitution at nucleotide position 57271. The glycine at codon 19091 is replaced by arginine, an amino acid with dissimilar 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.
Athena Diagnostics Inc RCV000724864 SCV002770626 uncertain significance not provided 2022-08-02 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000724864 SCV003821103 uncertain significance not provided 2019-04-23 criteria provided, single submitter clinical testing

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