ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.84652G>A (p.Gly28218Ser)

gnomAD frequency: 0.00006  dbSNP: rs727504693
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155969 SCV000205681 uncertain significance not specified 2013-08-02 criteria provided, single submitter clinical testing The Gly25650Ser variant in TTN has not been reported in individuals with cardiom yopathy or in large population studies. Computational analysis (biochemical ami no acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information is needed to fully assess the clinical significant of the Gly25650Ser variant.
GeneDx RCV001589020 SCV001816608 likely benign not provided 2020-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345511 SCV002650695 uncertain significance Cardiovascular phenotype 2019-10-01 criteria provided, single submitter clinical testing The p.G19153S variant (also known as c.57457G>A), located in coding exon 153 of the TTN gene, results from a G to A substitution at nucleotide position 57457. The glycine at codon 19153 is replaced by serine, an amino acid with 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 RCV001589020 SCV003825917 uncertain significance not provided 2019-06-27 criteria provided, single submitter clinical testing

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