ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11667G>T (p.Glu3889Asp)

gnomAD frequency: 0.00006  dbSNP: rs377423256
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000643248 SCV000764935 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2018-01-08 criteria provided, single submitter clinical testing
New York Genome Center RCV004799227 SCV001468753 uncertain significance Dilated cardiomyopathy 1G; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2019-07-12 criteria provided, single submitter clinical testing
GeneDx RCV001556473 SCV001778062 uncertain significance not provided 2019-07-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002397236 SCV002713678 uncertain significance Cardiovascular phenotype 2019-09-30 criteria provided, single submitter clinical testing The p.E3526D variant (also known as c.10578G>T), located in coding exon 44 of the TTN gene, results from a G to T substitution at nucleotide position 10578. The glutamic acid at codon 3526 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, aspartic acid 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.

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