ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.85450G>A (p.Asp28484Asn)

gnomAD frequency: 0.00003  dbSNP: rs56330345
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704924 SCV000237663 likely benign not provided 2021-04-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000643365 SCV000765052 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354507 SCV002649786 uncertain significance Cardiovascular phenotype 2018-09-07 criteria provided, single submitter clinical testing The p.D19419N variant (also known as c.58255G>A), located in coding exon 153 of the TTN gene, results from a G to A substitution at nucleotide position 58255. The aspartic acid at codon 19419 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is 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 RCV001704924 SCV003824272 uncertain significance not provided 2023-08-14 criteria provided, single submitter clinical testing

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