ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.61244_61245delinsAG (p.Thr20415Lys)

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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 RCV002452112 SCV002612711 uncertain significance Cardiovascular phenotype 2019-06-11 criteria provided, single submitter clinical testing The c.34049_34050delCAinsAG variant (also known as p.T11350K), located in coding exon 131 of the TTN gene, results from an in-frame deletion of CA and insertion of AG at nucleotide positions 34049 to 34050. This results in the substitution of the threonine residue for a lysine residue at codon 11350, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and lysine is the reference amino acid in other vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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