ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.81673G>A (p.Val27225Ile)

gnomAD frequency: 0.00016  dbSNP: rs375211424
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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 RCV000218927 SCV000272770 uncertain significance not specified 2016-04-01 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Val24657Ile v ariant in TTN has not been previously reported in individuals with cardiomyopath y. It has been identified in 4/15984 South Asian and 3/10544 Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs375211424). Valine (Val) at position 24657 is not conserved in mammals or evo lutionarily distant species and >10 species carry an isoleucine (Ile), raising t he possibility that this change may be tolerated. Additional computational predi ction tools do not provide strong support for or against an impact to the protei n. In summary, while the clinical significance of the p.Val24657Ile variant is u ncertain, these data suggest that it is more likely to be benign.
Eurofins Ntd Llc (ga) RCV000726347 SCV000343972 uncertain significance not provided 2016-08-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002347848 SCV002653006 uncertain significance Cardiovascular phenotype 2019-08-16 criteria provided, single submitter clinical testing The p.V18160I variant (also known as c.54478G>A), located in coding exon 153 of the TTN gene, results from a G to A substitution at nucleotide position 54478. The valine at codon 18160 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, isoleucine is the reference amino acid in other 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.
Fulgent Genetics, Fulgent Genetics RCV002478778 SCV002776881 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-12-20 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000726347 SCV003827236 uncertain significance not provided 2020-09-18 criteria provided, single submitter clinical testing

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