ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.92905C>T (p.Arg30969Trp)

gnomAD frequency: 0.00001  dbSNP: rs754767262
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000643822 SCV000765509 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002360589 SCV002664816 uncertain significance Cardiovascular phenotype 2019-12-12 criteria provided, single submitter clinical testing The p.R21904W variant (also known as c.65710C>T), located in coding exon 166 of the TTN gene, results from a C to T substitution at nucleotide position 65710. The arginine at codon 21904 is replaced by tryptophan, 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.
Breakthrough Genomics, Breakthrough Genomics RCV004692016 SCV005188104 uncertain significance not provided criteria provided, single submitter not provided
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV005405235 SCV006068906 likely benign not specified 2025-04-09 criteria provided, single submitter clinical testing
GenomeConnect - Invitae Patient Insights Network RCV004545797 SCV004037515 not provided TTN-related disorder no assertion provided phenotyping only Variant classified as Uncertain significance and reported on 08-21-2017 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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