ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.81029T>C (p.Val27010Ala)

gnomAD frequency: 0.00002  dbSNP: rs369235214
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001092233 SCV001248643 uncertain significance not provided 2019-07-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002307684 SCV002600377 uncertain significance not specified 2022-10-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002348554 SCV002643418 uncertain significance Cardiovascular phenotype 2018-08-27 criteria provided, single submitter clinical testing The p.V17945A variant (also known as c.53834T>C), located in coding exon 153 of the TTN gene, results from a T to C substitution at nucleotide position 53834. The valine at codon 17945 is replaced by alanine, an amino acid with similar properties. 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.

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