ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.12011A>G (p.Glu4004Gly)

gnomAD frequency: 0.00016  dbSNP: rs376000381
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559272 SCV000642651 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-02-15 criteria provided, single submitter clinical testing
GeneDx RCV001570411 SCV001794702 likely benign not provided 2019-08-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456140 SCV002735691 uncertain significance Cardiovascular phenotype 2019-12-26 criteria provided, single submitter clinical testing The p.E3641G variant (also known as c.10922A>G), located in coding exon 44 of the TTN gene, results from an A to G substitution at nucleotide position 10922. The glutamic acid at codon 3641 is replaced by glycine, an amino acid with similar properties. This amino acid position is not 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.

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