ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.51579G>C (p.Arg17193Ser)

gnomAD frequency: 0.00001  dbSNP: rs759285989
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000184600 SCV000237270 uncertain significance not specified 2014-08-05 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).
Ambry Genetics RCV002453673 SCV002736706 uncertain significance Cardiovascular phenotype 2019-10-14 criteria provided, single submitter clinical testing The p.R8128S variant (also known as c.24384G>C), located in coding exon 99 of the TTN gene, results from a G to C substitution at nucleotide position 24384. The arginine at codon 8128 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is not 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 RCV002503728 SCV002816080 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 2021-08-16 criteria provided, single submitter clinical testing

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