ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88820G>A (p.Arg29607Gln)

gnomAD frequency: 0.00001  dbSNP: rs755212831
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618969 SCV000737281 uncertain significance Cardiovascular phenotype 2017-05-30 criteria provided, single submitter clinical testing The p.R20542Q variant (also known as c.61625G>A), located in coding exon 159 of the TTN gene, results from a G to A substitution at nucleotide position 61625. The arginine at codon 20542 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species; however, glutamine 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.
Invitae RCV000642986 SCV000764673 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-10-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477351 SCV002788631 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 2021-07-21 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139945 SCV003825583 uncertain significance not provided 2022-05-16 criteria provided, single submitter clinical testing

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