ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.75526C>T (p.Arg25176Cys)

gnomAD frequency: 0.00001  dbSNP: rs368339903
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000643002 SCV000764689 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002334123 SCV002635103 uncertain significance Cardiovascular phenotype 2019-09-27 criteria provided, single submitter clinical testing The p.R16111C variant (also known as c.48331C>T), located in coding exon 153 of the TTN gene, results from a C to T substitution at nucleotide position 48331. The arginine at codon 16111 is replaced by cysteine, an amino acid with highly dissimilar properties. 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.

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