ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.61588C>A (p.Pro20530Thr)

gnomAD frequency: 0.00004  dbSNP: rs755700079
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704911 SCV000237379 likely benign not provided 2020-02-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002453677 SCV002616911 uncertain significance Cardiovascular phenotype 2019-10-23 criteria provided, single submitter clinical testing The p.P11465T variant (also known as c.34393C>A), located in coding exon 131 of the TTN gene, results from a C to A substitution at nucleotide position 34393. The proline at codon 11465 is replaced by threonine, 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 tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330546 SCV004038698 uncertain significance not specified 2023-08-19 criteria provided, single submitter clinical testing

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