ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.70982C>T (p.Pro23661Leu)

gnomAD frequency: 0.00001  dbSNP: rs1060500459
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468968 SCV000542581 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-06-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000997406 SCV001152777 uncertain significance not provided 2019-04-01 criteria provided, single submitter clinical testing
AiLife Diagnostics, AiLife Diagnostics RCV000997406 SCV002503197 uncertain significance not provided 2021-12-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002329020 SCV002629051 uncertain significance Cardiovascular phenotype 2019-12-04 criteria provided, single submitter clinical testing The p.P14596L variant (also known as c.43787C>T), located in coding exon 153 of the TTN gene, results from a C to T substitution at nucleotide position 43787. The proline at codon 14596 is replaced by leucine, 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 RCV000997406 SCV004237437 uncertain significance not provided 2023-06-13 criteria provided, single submitter clinical testing

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