ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.7399A>G (p.Lys2467Glu)

gnomAD frequency: 0.00001  dbSNP: rs1362423521
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620245 SCV000737319 uncertain significance Cardiovascular phenotype 2017-11-03 criteria provided, single submitter clinical testing The p.K2421E variant (also known as c.7261A>G), located in coding exon 30 of the TTN gene, results from an A to G substitution at nucleotide position 7261. The lysine at codon 2421 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002491320 SCV002800903 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 2021-10-26 criteria provided, single submitter clinical testing

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