ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.102658T>G (p.Ser34220Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002393957 SCV002675178 uncertain significance Cardiovascular phenotype 2020-08-19 criteria provided, single submitter clinical testing The p.S25155A variant (also known as c.75463T>G), located in coding exon 185 of the TTN gene, results from a T to G substitution at nucleotide position 75463. The serine at codon 25155 is replaced by alanine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species; however, alanine is the reference amino acid in other 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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