ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.77047A>G (p.Ile25683Val)

gnomAD frequency: 0.00009  dbSNP: rs375611562
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591389 SCV000708289 uncertain significance not provided 2017-05-04 criteria provided, single submitter clinical testing
GeneDx RCV000591389 SCV001990812 uncertain significance not provided 2019-04-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes splice predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Located in the A-band of the titin protein, where the majority of pathogenic truncating variants have been reported; Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function
Ambry Genetics RCV002341532 SCV002643507 uncertain significance Cardiovascular phenotype 2019-08-13 criteria provided, single submitter clinical testing The p.I16618V variant (also known as c.49852A>G), located in coding exon 153 of the TTN gene, results from an A to G substitution at nucleotide position 49852. The isoleucine at codon 16618 is replaced by valine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, valine is the reference amino acid in other 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 RCV000591389 SCV003825597 uncertain significance not provided 2022-06-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000591389 SCV004225811 uncertain significance not provided 2023-05-01 criteria provided, single submitter clinical testing BP4

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