ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.105482C>A (p.Thr35161Asn)

gnomAD frequency: 0.00025  dbSNP: rs372263729
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000525111 SCV000642574 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-04-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002408822 SCV002669636 uncertain significance Cardiovascular phenotype 2018-08-15 criteria provided, single submitter clinical testing The p.T26096N variant (also known as c.78287C>A), located in coding exon 185 of the TTN gene, results from a C to A substitution at nucleotide position 78287. The threonine at codon 26096 is replaced by asparagine, an amino acid with similar properties. This amino acid position is 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150076 SCV003838501 likely benign Cardiomyopathy 2021-09-21 criteria provided, single submitter clinical testing
GeneDx RCV000185121 SCV000237947 not provided not provided 2013-07-12 no assertion provided 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).

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