ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.59489A>G (p.Lys19830Arg)

gnomAD frequency: 0.00011  dbSNP: rs764259290
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000466005 SCV000542884 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-12-15 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000732238 SCV000860161 uncertain significance not provided 2018-03-14 criteria provided, single submitter clinical testing
GeneDx RCV000732238 SCV001758617 uncertain significance not provided 2020-09-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002323681 SCV002609900 uncertain significance Cardiovascular phenotype 2019-12-04 criteria provided, single submitter clinical testing The p.K10765R variant (also known as c.32294A>G), located in coding exon 128 of the TTN gene, results from an A to G substitution at nucleotide position 32294. The lysine at codon 10765 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is well 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.
Fulgent Genetics, Fulgent Genetics RCV002480354 SCV002785603 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 2021-07-05 criteria provided, single submitter clinical testing

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