ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.96928A>C (p.Thr32310Pro)

gnomAD frequency: 0.00018  dbSNP: rs542208825
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230604 SCV000286940 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-08-24 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000593858 SCV000701221 uncertain significance not provided 2018-06-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617612 SCV000736596 uncertain significance Cardiovascular phenotype 2019-12-02 criteria provided, single submitter clinical testing The p.T23245P variant (also known as c.69733A>C), located in coding exon 175 of the TTN gene, results from an A to C substitution at nucleotide position 69733. The threonine at codon 23245 is replaced by proline, an amino acid with highly similar properties. This amino acid position is not 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 RCV002478851 SCV002784103 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 2021-08-20 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV000593858 SCV003818428 uncertain significance not provided 2021-04-05 criteria provided, single submitter clinical testing

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