ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.82084A>G (p.Ile27362Val)

gnomAD frequency: 0.00006  dbSNP: rs886039181
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000245742 SCV000320504 uncertain significance Cardiovascular phenotype 2020-01-14 criteria provided, single submitter clinical testing The p.I18297V variant (also known as c.54889A>G), located in coding exon 153 of the TTN gene, results from an A to G substitution at nucleotide position 54889. The isoleucine at codon 18297 is replaced by valine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrates; however, valine 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.
Invitae RCV000476591 SCV000542897 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2018-01-11 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798758 SCV002043004 uncertain significance Cardiomyopathy 2020-06-25 criteria provided, single submitter clinical testing

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