ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88513C>T (p.Arg29505Cys)

gnomAD frequency: 0.00004  dbSNP: rs372360369
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559910 SCV000643843 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-02-23 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000733570 SCV000861649 uncertain significance not provided 2018-06-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765550 SCV000896865 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 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000733570 SCV001771305 likely benign not provided 2018-08-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002358527 SCV002655654 uncertain significance Cardiovascular phenotype 2019-05-01 criteria provided, single submitter clinical testing The p.R20440C variant (also known as c.61318C>T), located in coding exon 158 of the TTN gene, results from a C to T substitution at nucleotide position 61318. The arginine at codon 20440 is replaced by cysteine, an amino acid with highly dissimilar 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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