ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.69476G>T (p.Ser23159Ile)

dbSNP: rs2468747229
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002328080 SCV002629649 uncertain significance Cardiovascular phenotype 2020-08-03 criteria provided, single submitter clinical testing The p.S14094I variant (also known as c.42281G>T), located in coding exon 152 of the TTN gene, results from a G to T substitution at nucleotide position 42281. The serine at codon 14094 is replaced by isoleucine, an amino acid with dissimilar properties. This amino acid position is not well 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.
GeneDx RCV005370205 SCV005921661 uncertain significance not provided 2024-10-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge

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