ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.45247C>T (p.Arg15083Trp)

gnomAD frequency: 0.00011  dbSNP: rs199834143
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172327 SCV000051170 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000610466 SCV000712386 uncertain significance not specified 2016-07-18 criteria provided, single submitter clinical testing The p.Arg12515Trp variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/9790 African and 2/66508 Euro pean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadins titute.org; dbSNP rs199834143). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Arg12515Trp variant is uncertain.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770033 SCV000901459 uncertain significance Cardiomyopathy 2017-09-27 criteria provided, single submitter clinical testing
GeneDx RCV000172327 SCV001781624 likely benign not provided 2019-02-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31983221)
Ambry Genetics RCV002408749 SCV002717343 uncertain significance Cardiovascular phenotype 2020-09-22 criteria provided, single submitter clinical testing The p.R6018W variant (also known as c.18052C>T), located in coding exon 72 of the TTN gene, results from a C to T substitution at nucleotide position 18052. The arginine at codon 6018 is replaced by tryptophan, an amino acid with dissimilar 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 RCV000172327 SCV003827301 uncertain significance not provided 2023-06-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003416063 SCV004117708 uncertain significance TTN-related condition 2023-07-27 criteria provided, single submitter clinical testing The TTN c.45247C>T variant is predicted to result in the amino acid substitution p.Arg15083Trp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179486304-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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