ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.66568G>C (p.Gly22190Arg)

gnomAD frequency: 0.00004  dbSNP: rs757537780
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000302755 SCV000237440 uncertain significance not specified 2014-05-16 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 DCM-CRDM panel(s).
Eurofins Ntd Llc (ga) RCV000724911 SCV000332360 uncertain significance not provided 2015-06-18 criteria provided, single submitter clinical testing
Invitae RCV000457230 SCV000542471 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-05-31 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852510 SCV000995206 uncertain significance Sudden cardiac arrest 2019-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354504 SCV002621752 uncertain significance Cardiovascular phenotype 2019-05-29 criteria provided, single submitter clinical testing The p.G13125R variant (also known as c.39373G>C), located in coding exon 143 of the TTN gene, results from a G to C substitution at nucleotide position 39373. The glycine at codon 13125 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.
Fulgent Genetics, Fulgent Genetics RCV002478641 SCV002777965 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 2021-11-04 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000724911 SCV003821218 uncertain significance not provided 2019-11-18 criteria provided, single submitter clinical testing

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