ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.85309G>A (p.Gly28437Ser)

gnomAD frequency: 0.00002  dbSNP: rs757770952
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000271735 SCV000335596 uncertain significance not provided 2015-09-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356374 SCV002648074 uncertain significance Cardiovascular phenotype 2019-06-26 criteria provided, single submitter clinical testing The p.G19372S variant (also known as c.58114G>A), located in coding exon 153 of the TTN gene, results from a G to A substitution at nucleotide position 58114. The glycine at codon 19372 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 RCV000271735 SCV003822848 uncertain significance not provided 2019-07-12 criteria provided, single submitter clinical testing

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