ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.70435C>T (p.Arg23479Trp)

gnomAD frequency: 0.00002  dbSNP: rs760509116
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724093 SCV000228503 uncertain significance not provided 2014-09-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000467630 SCV000542873 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-11-24 criteria provided, single submitter clinical testing
GeneDx RCV000724093 SCV000618220 likely benign not provided 2019-09-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26272908)
Ambry Genetics RCV002326967 SCV002627755 uncertain significance Cardiovascular phenotype 2019-03-14 criteria provided, single submitter clinical testing The p.R14414W variant (also known as c.43240C>T), located in coding exon 153 of the TTN gene, results from a C to T substitution at nucleotide position 43240. The arginine at codon 14414 is replaced by tryptophan, an amino acid with dissimilar properties. This variant (reported as p.R21838W, c.65512C>T) co-occurred with additional variants in cardiac-related genes in a sudden unexplained death case (Santori M et al. Arch. Dis. Child., 2015 Oct;100:952-6). 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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