ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.89072C>A (p.Thr29691Asn)

gnomAD frequency: 0.00001  dbSNP: rs794729525
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000184946 SCV000237714 uncertain significance not specified 2013-01-11 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 RCV000551750 SCV000643862 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-05-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354518 SCV002655017 uncertain significance Cardiovascular phenotype 2020-08-13 criteria provided, single submitter clinical testing The p.T20626N variant (also known as c.61877C>A), located in coding exon 160 of the TTN gene, results from a C to A substitution at nucleotide position 61877. The threonine at codon 20626 is replaced by asparagine, an amino acid with similar properties. This amino acid position is highly 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.

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