ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88852G>A (p.Glu29618Lys)

dbSNP: rs879222602
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001779449 SCV002014840 uncertain significance not specified 2021-10-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002359253 SCV002660397 uncertain significance Cardiovascular phenotype 2018-06-13 criteria provided, single submitter clinical testing The p.E20553K variant (also known as c.61657G>A), located in coding exon 159 of the TTN gene, results from a G to A substitution at nucleotide position 61657. The glutamic acid at codon 20553 is replaced by lysine, an amino acid with similar properties. This amino acid position is poorly 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.
Fulgent Genetics, Fulgent Genetics RCV002506820 SCV002817012 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 2021-09-23 criteria provided, single submitter clinical testing

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