ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.4981A>G (p.Ile1661Val)

gnomAD frequency: 0.00001  dbSNP: rs749438439
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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) RCV000176894 SCV000228657 uncertain significance not provided 2015-05-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000534726 SCV000643280 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-02-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336432 SCV002639293 uncertain significance Cardiovascular phenotype 2019-02-28 criteria provided, single submitter clinical testing The p.I1615V variant (also known as c.4843A>G), located in coding exon 26 of the TTN gene, results from an A to G substitution at nucleotide position 4843. The isoleucine at codon 1615 is replaced by valine, 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 RCV000176894 SCV003827352 uncertain significance not provided 2023-11-17 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV005404332 SCV006067879 likely benign not specified 2025-04-09 criteria provided, single submitter clinical testing

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