ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88863A>C (p.Glu29621Asp)

gnomAD frequency: 0.00001  dbSNP: rs750981091
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000555629 SCV000643854 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-06-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002358529 SCV002655776 uncertain significance Cardiovascular phenotype 2018-09-21 criteria provided, single submitter clinical testing The p.E20556D variant (also known as c.61668A>C), located in coding exon 159 of the TTN gene, results from an A to C substitution at nucleotide position 61668. The glutamic acid at codon 20556 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.
Fulgent Genetics, Fulgent Genetics RCV002491051 SCV002785497 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-11-08 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139833 SCV003822286 uncertain significance not provided 2022-04-20 criteria provided, single submitter clinical testing

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