ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.72674C>T (p.Pro24225Leu)

gnomAD frequency: 0.00009  dbSNP: rs55992239
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000714087 SCV000701787 uncertain significance not provided 2018-05-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618453 SCV000737215 uncertain significance Cardiovascular phenotype 2018-08-29 criteria provided, single submitter clinical testing The p.P15160L variant (also known as c.45479C>T), located in coding exon 153 of the TTN gene, results from a C to T substitution at nucleotide position 45479. The proline at codon 15160 is replaced by leucine, an amino acid with similar properties. This alteration has been previously reported in a sudden unexpected death cohort in a patient who also carried variants in other cardiac-related genes (Suktitipat B et al. PLoS ONE. 2017;12:e0180056). 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.
Invitae RCV000643696 SCV000765383 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-09-22 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000714087 SCV000844754 uncertain significance not provided 2018-01-24 criteria provided, single submitter clinical testing
GeneDx RCV000714087 SCV001764346 likely benign not provided 2021-09-29 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17344846, 28704380)
Revvity Omics, Revvity RCV000714087 SCV003818444 uncertain significance not provided 2023-06-08 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000714087 SCV001808294 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000714087 SCV001919478 uncertain significance not provided no assertion criteria provided clinical testing

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