ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.80209T>A (p.Cys26737Ser) (rs566764105)

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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 RCV000619393 SCV000735604 uncertain significance Cardiovascular phenotype 2016-11-04 criteria provided, single submitter clinical testing The p.C17672S variant (also known as c.53014T>A), located in coding exon 153 of the TTN gene, results from a T to A substitution at nucleotide position 53014. The cysteine at codon 17672 is replaced by serine, an amino acid with dissimilar properties, and is located in the A-band region of the N2-B isoform of the titin protein. This variant was previously reported in the SNPDatabase as rs566764105. Based on data from gnomAD, the A allele has an overall frequency of less than 0.01% (7/281896) total alleles studied. The highest observed frequency was 0.037% (7/18872) of East Asian alleles. 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.
GeneDx RCV000839813 SCV000981720 likely benign not provided 2018-06-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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