ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.90691C>T (p.Pro30231Ser)

gnomAD frequency: 0.00012  dbSNP: rs373722546
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726510 SCV000701529 uncertain significance not provided 2017-04-03 criteria provided, single submitter clinical testing
GeneDx RCV000726510 SCV000729440 likely benign not provided 2019-12-18 criteria provided, single submitter clinical testing
Invitae RCV000642932 SCV000764619 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002367999 SCV002660695 uncertain significance Cardiovascular phenotype 2019-07-26 criteria provided, single submitter clinical testing The p.P21166S variant (also known as c.63496C>T), located in coding exon 162 of the TTN gene, results from a C to T substitution at nucleotide position 63496. The proline at codon 21166 is replaced by serine, an amino acid with similar 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.
Revvity Omics, Revvity RCV000726510 SCV003818361 uncertain significance not provided 2021-08-09 criteria provided, single submitter clinical testing

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