ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.40688C>T (p.Thr13563Ile)

gnomAD frequency: 0.00007  dbSNP: rs780572853
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517550 SCV000616073 uncertain significance not specified 2017-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002384001 SCV002693338 uncertain significance Cardiovascular phenotype 2019-09-06 criteria provided, single submitter clinical testing The p.T4498I variant (also known as c.13493C>T), located in coding exon 48 of the TTN gene, results from a C to T substitution at nucleotide position 13493. The threonine at codon 4498 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and isoleucine 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.
Fulgent Genetics, Fulgent Genetics RCV002490895 SCV002777559 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 2021-09-20 criteria provided, single submitter clinical testing

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