ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88819C>T (p.Arg29607Trp)

gnomAD frequency: 0.00003  dbSNP: rs781330566
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000469307 SCV000542624 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-07-31 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000731116 SCV000858893 uncertain significance not provided 2018-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356641 SCV002654959 uncertain significance Cardiovascular phenotype 2019-10-18 criteria provided, single submitter clinical testing The p.R20542W variant (also known as c.61624C>T), located in coding exon 159 of the TTN gene, results from a C to T substitution at nucleotide position 61624. The arginine at codon 20542 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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