ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.71679T>G (p.Asp23893Glu)

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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 RCV002328306 SCV002638409 uncertain significance Cardiovascular phenotype 2019-01-28 criteria provided, single submitter clinical testing The p.D14828E variant (also known as c.44484T>G), located in coding exon 153 of the TTN gene, results from a T to G substitution at nucleotide position 44484. The aspartic acid at codon 14828 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be benign and unknown by PolyPhen and SIFT in silico analyses, respectively. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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