ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.9337C>T (p.Arg3113Cys)

gnomAD frequency: 0.00003  dbSNP: rs751998418
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593898 SCV000701061 uncertain significance not provided 2017-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002377224 SCV002687485 uncertain significance Cardiovascular phenotype 2019-10-23 criteria provided, single submitter clinical testing The p.R3067C variant (also known as c.9199C>T), located in coding exon 38 of the TTN gene, results from a C to T substitution at nucleotide position 9199. The arginine at codon 3067 is replaced by cysteine, an amino acid with highly 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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