ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.56456A>G (p.Asn18819Ser)

gnomAD frequency: 0.00016  dbSNP: rs201337786
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734565 SCV000862717 uncertain significance not provided 2018-08-02 criteria provided, single submitter clinical testing
GeneDx RCV000734565 SCV000976976 likely benign not provided 2021-02-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002440582 SCV002748532 uncertain significance Cardiovascular phenotype 2020-01-24 criteria provided, single submitter clinical testing The p.N9754S variant (also known as c.29261A>G), located in coding exon 117 of the TTN gene, results from an A to G substitution at nucleotide position 29261. The asparagine at codon 9754 is replaced by serine, an amino acid with highly similar 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.
Revvity Omics, Revvity RCV000734565 SCV003821033 uncertain significance not provided 2023-01-03 criteria provided, single submitter clinical testing

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