ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.1616T>A (p.Ile539Asn)

gnomAD frequency: 0.00004  dbSNP: rs774503024
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000184493 SCV000237137 likely benign not specified 2018-01-26 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000227362 SCV000286461 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390477 SCV002703194 uncertain significance Cardiovascular phenotype 2018-04-24 criteria provided, single submitter clinical testing The p.I539N variant (also known as c.1616T>A), located in coding exon 9 of the TTN gene, results from a T to A substitution at nucleotide position 1616. The isoleucine at codon 539 is replaced by asparagine, an amino acid with dissimilar properties. This amino acid position is not well 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 RCV003137714 SCV003822805 uncertain significance not provided 2022-08-29 criteria provided, single submitter clinical testing

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