ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.58684A>G (p.Ile19562Val)

dbSNP: rs397517637
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040408 SCV000064099 uncertain significance not specified 2015-03-21 criteria provided, single submitter clinical testing The p.Ile16994Val variant in TTN has been identified by our laboratory in 1 Cauc asian adult with DCM. It was absent from large population studies. Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. Splicing prediction tools suggest this varian t may lead to the creation of a novel 5' splice site; however, this information is not predictive enough to determine pathogenicity. In summary, the clinical si gnificance of the p.Ile16994Val variant is uncertain.
Invitae RCV000643442 SCV000765129 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-10-11 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770001 SCV000901427 uncertain significance Cardiomyopathy 2016-02-03 criteria provided, single submitter clinical testing
Genomic Medicine Lab, University of California San Francisco RCV001376061 SCV001573083 uncertain significance Hypertrophic cardiomyopathy 9 2020-12-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002321521 SCV002608579 uncertain significance Cardiovascular phenotype 2018-09-13 criteria provided, single submitter clinical testing The p.I10497V variant (also known as c.31489A>G), located in coding exon 125 of the TTN gene, results from an A to G substitution at nucleotide position 31489. The isoleucine at codon 10497 is replaced by valine, an amino acid with highly similar properties. This exon is located in the A-band region of the N2-B isoform of the titin protein and is constitutively expressed in TTN transcripts (percent spliced in or PSI 100%). This amino acid position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to create a new alternate splice donor site; however, direct evidence is unavailable. 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.

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