ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.58971A>C (p.Glu19657Asp)

gnomAD frequency: 0.00018  dbSNP: rs200728232
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000460883 SCV000542643 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-06 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000591455 SCV000709117 uncertain significance not provided 2017-06-06 criteria provided, single submitter clinical testing
GeneDx RCV000591455 SCV000977667 likely benign not provided 2018-03-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV002323680 SCV002609274 uncertain significance Cardiovascular phenotype 2019-01-14 criteria provided, single submitter clinical testing The p.E10592D variant (also known as c.31776A>C), located in coding exon 126 of the TTN gene, results from an A to C substitution at nucleotide position 31776. The glutamic acid at codon 10592 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is highly 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330687 SCV004038612 uncertain significance not specified 2023-08-19 criteria provided, single submitter clinical testing

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