ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.56755T>C (p.Tyr18919His)

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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 RCV002441918 SCV002750057 uncertain significance Cardiovascular phenotype 2018-01-04 criteria provided, single submitter clinical testing The p.Y9854H variant (also known as c.29560T>C), located in coding exon 118 of the TTN gene, results from a T to C substitution at nucleotide position 29560. The tyrosine at codon 9854 is replaced by histidine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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