ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.53785G>A (p.Glu17929Lys)

gnomAD frequency: 0.00001  dbSNP: rs201052994
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000467278 SCV000542793 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-07-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002451076 SCV002739884 uncertain significance Cardiovascular phenotype 2019-01-17 criteria provided, single submitter clinical testing The p.E8864K variant (also known as c.26590G>A), located in coding exon 106 of the TTN gene, results from a G to A substitution at nucleotide position 26590. The glutamic acid at codon 8864 is replaced by lysine, 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 RCV002481379 SCV002775860 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 2021-07-12 criteria provided, single submitter clinical testing

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