ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.1288G>A (p.Val430Ile)

gnomAD frequency: 0.00003  dbSNP: rs371639583
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727286 SCV000707245 uncertain significance not provided 2017-03-26 criteria provided, single submitter clinical testing
GeneDx RCV000594779 SCV000718394 likely benign not specified 2018-01-08 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.
Ambry Genetics RCV002384303 SCV002691558 uncertain significance Cardiovascular phenotype 2018-12-13 criteria provided, single submitter clinical testing The p.V430I variant (also known as c.1288G>A), located in coding exon 7 of the TTN gene, results from a G to A substitution at nucleotide position 1288. The valine at codon 430 is replaced by isoleucine, 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.
Revvity Omics, Revvity RCV000727286 SCV003825861 uncertain significance not provided 2023-01-25 criteria provided, single submitter clinical testing

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