ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.3868G>A (p.Glu1290Lys)

gnomAD frequency: 0.00001  dbSNP: rs748755381
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000248743 SCV000320642 uncertain significance Cardiovascular phenotype 2015-12-24 criteria provided, single submitter clinical testing The p.E1244K variant (also known as c.3730G>A), located in coding exon 21 of the TTN gene, results from a G to A substitution at nucleotide position 3730. The glutamic acid at codon 1244 is replaced by lysine, an amino acid with similar properties. Based on data from ExAC, the A allele was reported in 2 of 119796 (0.002%) total alleles (Exome Aggregation Consortium (ExAC), Cambridge, MA (URL: http://exac.broadinstitute.org) [Accessed December 22, 2015]). This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6500 samples (13000 alleles) with coverage at this position. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be benign by PolyPhen in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002494797 SCV002791453 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-07-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003137867 SCV003826695 uncertain significance not provided 2022-12-09 criteria provided, single submitter clinical testing

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