ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.60104G>T (p.Cys20035Phe)

gnomAD frequency: 0.00001  dbSNP: rs774488793
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234539 SCV000286755 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2015-11-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444894 SCV002611677 uncertain significance Cardiovascular phenotype 2019-09-03 criteria provided, single submitter clinical testing The p.C10970F variant (also known as c.32909G>T), located in coding exon 130 of the TTN gene, results from a G to T substitution at nucleotide position 32909. The cysteine at codon 10970 is replaced by phenylalanine, an amino acid with highly dissimilar 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.

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