ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.7628C>G (p.Thr2543Ser)

dbSNP: rs765136135
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000184185 SCV000236806 likely benign not specified 2012-10-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000643624 SCV000765311 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-04 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852929 SCV000995673 likely benign Sudden cardiac arrest 2019-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390475 SCV002672705 uncertain significance Cardiovascular phenotype 2019-01-18 criteria provided, single submitter clinical testing The p.T2497S variant (also known as c.7490C>G), located in coding exon 31 of the TTN gene, results from a C to G substitution at nucleotide position 7490. The threonine at codon 2497 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and serine is the reference amino acid in other 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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