ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88309G>A (p.Gly29437Ser)

gnomAD frequency: 0.00003  dbSNP: rs199916082
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172212 SCV000054906 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Ambry Genetics RCV002354435 SCV002654378 uncertain significance Cardiovascular phenotype 2020-06-29 criteria provided, single submitter clinical testing The p.G20372S variant (also known as c.61114G>A), located in coding exon 158 of the TTN gene, results from a G to A substitution at nucleotide position 61114. The glycine at codon 20372 is replaced by serine, an amino acid with similar properties. This amino acid position is poorly 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 RCV000172212 SCV003825624 uncertain significance not provided 2023-08-31 criteria provided, single submitter clinical testing

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