ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.4291C>T (p.Arg1431Trp)

gnomAD frequency: 0.00016  dbSNP: rs139636676
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000472530 SCV000543097 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-06 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000594052 SCV000701124 uncertain significance not provided 2017-06-05 criteria provided, single submitter clinical testing
GeneDx RCV000594052 SCV000977664 likely benign not provided 2020-02-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002329026 SCV002627474 uncertain significance Cardiovascular phenotype 2019-11-21 criteria provided, single submitter clinical testing The p.R1385W variant (also known as c.4153C>T), located in coding exon 23 of the TTN gene, results from a C to T substitution at nucleotide position 4153. The arginine at codon 1385 is replaced by tryptophan, an amino acid with 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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