ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.14152A>G (p.Lys4718Glu)

gnomAD frequency: 0.00003  dbSNP: rs757119133
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704950 SCV000238193 likely benign not provided 2020-07-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000464161 SCV000542987 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381621 SCV002693755 uncertain significance Cardiovascular phenotype 2018-12-12 criteria provided, single submitter clinical testing The p.K4355E variant (also known as c.13063A>G), located in coding exon 45 of the TTN gene, results from an A to G substitution at nucleotide position 13063. The lysine at codon 4355 is replaced by glutamic acid, an amino acid with similar properties. This variant (reported as p.Lys4401Glu, c.13201A>G) was reported to co-occur with a TTN frameshift alteration in an individual with peripartum cardiomyopathy (van Spaendonck-Zwarts KY et al. Eur. Heart J., 2014 Aug;35:2165-73). This amino acid position is 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.
KardioGenetik, Herz- und Diabeteszentrum NRW RCV003233492 SCV003932336 uncertain significance Hypertrophic cardiomyopathy 9 2023-05-31 criteria provided, single submitter clinical testing

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