ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.40915G>T (p.Gly13639Cys)

gnomAD frequency: 0.00002  dbSNP: rs1343417772
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002383723 SCV002697212 uncertain significance Cardiovascular phenotype 2019-09-03 criteria provided, single submitter clinical testing The p.G4574C variant (also known as c.13720G>T), located in coding exon 51 of the TTN gene, results from a G to T substitution at nucleotide position 13720. The glycine at codon 4574 is replaced by cysteine, an amino acid with highly dissimilar properties. 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.
GeneDx RCV002463207 SCV002756626 likely benign not provided 2018-08-31 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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