ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.45725G>A (p.Arg15242Lys)

gnomAD frequency: 0.00002  dbSNP: rs140795503
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000184539 SCV000237194 uncertain significance not specified 2013-02-27 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 panel(s).
Invitae RCV000466257 SCV000542827 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-06-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002408820 SCV002711539 uncertain significance Cardiovascular phenotype 2017-12-22 criteria provided, single submitter clinical testing The p.R6177K variant (also known as c.18530G>A), located in coding exon 74 of the TTN gene, results from a G to A substitution at nucleotide position 18530. The arginine at codon 6177 is replaced by lysine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and lysine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be benign and unknown by PolyPhen and SIFT in silico analyses, respectively. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002485241 SCV002782661 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 2021-11-16 criteria provided, single submitter clinical testing

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