ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.76051T>C (p.Trp25351Arg)

gnomAD frequency: 0.00004  dbSNP: rs201839118
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620012 SCV000736669 uncertain significance Cardiovascular phenotype 2018-12-05 criteria provided, single submitter clinical testing The p.W16286R variant (also known as c.48856T>C), located in coding exon 153 of the TTN gene, results from a T to C substitution at nucleotide position 48856. The tryptophan at codon 16286 is replaced by arginine, 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 variant remains unclear.
GeneDx RCV002225687 SCV002504645 likely benign not provided 2021-06-03 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Revvity Omics, Revvity RCV002225687 SCV003821778 uncertain significance not provided 2021-12-08 criteria provided, single submitter clinical testing

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