ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.68078C>T (p.Thr22693Met)

gnomAD frequency: 0.00001  dbSNP: rs758700425
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172274 SCV000051147 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Invitae RCV000227704 SCV000286796 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2015-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618764 SCV000735987 uncertain significance Cardiovascular phenotype 2020-09-10 criteria provided, single submitter clinical testing The p.T13628M variant (also known as c.40883C>T), located in coding exon 147 of the TTN gene, results from a C to T substitution at nucleotide position 40883. The threonine at codon 13628 is replaced by methionine, an amino acid with similar properties. This alteration has been reported as a secondary cardiac variant in an exome cohort (Ng D et al. Circ Cardiovasc Genet, 2013 Aug;6:337-46). 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.
Fulgent Genetics, Fulgent Genetics RCV002492724 SCV002787830 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 2021-12-03 criteria provided, single submitter clinical testing

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