ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.91434A>C (p.Glu30478Asp)

gnomAD frequency: 0.00011  dbSNP: rs373900294
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176905 SCV000228675 uncertain significance not provided 2015-03-31 criteria provided, single submitter clinical testing
Invitae RCV000228254 SCV000286908 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-02-15 criteria provided, single submitter clinical testing
GeneDx RCV000176905 SCV001826602 likely benign not provided 2020-05-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002362901 SCV002658591 uncertain significance Cardiovascular phenotype 2019-06-24 criteria provided, single submitter clinical testing The p.E21413D variant (also known as c.64239A>C), located in coding exon 163 of the TTN gene, results from an A to C substitution at nucleotide position 64239. The glutamic acid at codon 21413 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.

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