ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.93724C>T (p.Arg31242Cys)

gnomAD frequency: 0.00004  dbSNP: rs563887822
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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 RCV000471260 SCV000542570 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-03-02 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000518703 SCV000616180 uncertain significance not provided 2017-09-12 criteria provided, single submitter clinical testing
GeneDx RCV000518703 SCV001800975 likely benign not provided 2020-12-31 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002365596 SCV002661661 uncertain significance Cardiovascular phenotype 2019-05-29 criteria provided, single submitter clinical testing The p.R22177C variant (also known as c.66529C>T), located in coding exon 166 of the TTN gene, results from a C to T substitution at nucleotide position 66529. The arginine at codon 22177 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000518703 SCV003824271 uncertain significance not provided 2019-03-14 criteria provided, single submitter clinical testing

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