ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.58857A>C (p.Glu19619Asp)

gnomAD frequency: 0.00009  dbSNP: rs368026488
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721148 SCV000236768 likely benign not provided 2018-08-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000643651 SCV000765338 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002321739 SCV002609985 uncertain significance Cardiovascular phenotype 2020-01-29 criteria provided, single submitter clinical testing The p.E10554D variant (also known as c.31662A>C), located in coding exon 126 of the TTN gene, results from an A to C substitution at nucleotide position 31662. The glutamic acid at codon 10554 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.
Revvity Omics, Revvity RCV001721148 SCV003820141 uncertain significance not provided 2020-03-26 criteria provided, single submitter clinical testing

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