ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.427G>A (p.Glu143Lys)

gnomAD frequency: 0.00002  dbSNP: rs754182768
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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 RCV000528780 SCV000643159 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-05-16 criteria provided, single submitter clinical testing
GeneDx RCV001591239 SCV001823092 likely benign not provided 2020-09-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002330889 SCV002630048 uncertain significance Cardiovascular phenotype 2019-09-09 criteria provided, single submitter clinical testing The p.E143K variant (also known as c.427G>A), located in coding exon 3 of the TTN gene, results from a G to A substitution at nucleotide position 427. The glutamic acid at codon 143 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001591239 SCV003825440 uncertain significance not provided 2020-08-18 criteria provided, single submitter clinical testing

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