ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.55010C>T (p.Pro18337Leu)

gnomAD frequency: 0.00001  dbSNP: rs764568599
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000866210 SCV001007274 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-11-21 criteria provided, single submitter clinical testing
GeneDx RCV001585819 SCV001818437 likely benign not provided 2020-11-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002434090 SCV002751687 uncertain significance Cardiovascular phenotype 2019-10-02 criteria provided, single submitter clinical testing The p.P9272L variant (also known as c.27815C>T), located in coding exon 110 of the TTN gene, results from a C to T substitution at nucleotide position 27815. The proline at codon 9272 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 RCV001585819 SCV003819782 uncertain significance not provided 2021-05-19 criteria provided, single submitter clinical testing

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