ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.97900G>A (p.Gly32634Ser)

dbSNP: rs1693772565
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197741 SCV001368520 uncertain significance Tibial muscular dystrophy 2020-01-29 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3,BP1.
Ambry Genetics RCV002365896 SCV002663024 uncertain significance Cardiovascular phenotype 2018-07-27 criteria provided, single submitter clinical testing The p.G23569S variant (also known as c.70705G>A), located in coding exon 178 of the TTN gene, results from a G to A substitution at nucleotide position 70705. The glycine at codon 23569 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.

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