ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.54053A>T (p.Lys18018Met)

gnomAD frequency: 0.00009  dbSNP: rs368425364
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000538658 SCV000643352 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-08-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000658892 SCV000780692 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing TTN: BP4
Eurofins Ntd Llc (ga) RCV000658892 SCV000855317 uncertain significance not provided 2018-08-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000658892 SCV001714653 uncertain significance not provided 2019-06-17 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000658892 SCV001879660 uncertain significance not provided 2020-12-30 criteria provided, single submitter clinical testing
GeneDx RCV000658892 SCV002044085 likely benign not provided 2021-06-23 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)
Ambry Genetics RCV002456146 SCV002739738 uncertain significance Cardiovascular phenotype 2019-10-29 criteria provided, single submitter clinical testing The p.K8953M variant (also known as c.26858A>T), located in coding exon 107 of the TTN gene, results from an A to T substitution at nucleotide position 26858. The lysine at codon 8953 is replaced by methionine, an amino acid with 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.
Revvity Omics, Revvity RCV000658892 SCV003820158 uncertain significance not provided 2023-03-13 criteria provided, single submitter clinical testing

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