ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.44284C>A (p.Arg14762=)

gnomAD frequency: 0.00001  dbSNP: rs770767998
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001460507 SCV001664381 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-02-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298799 SCV004005950 uncertain significance Cardiovascular phenotype 2023-04-22 criteria provided, single submitter clinical testing The c.17089C>A variant (also known as p.R5697R), located in coding exon 67 of the TTN gene, results from a C to A substitution at nucleotide position 17089. This nucleotide substitution does not change the arginine at codon 5697. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice acceptor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV004774449 SCV005387162 uncertain significance not provided 2024-02-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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