ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.49770G>C (p.Met16590Ile)

gnomAD frequency: 0.00001  dbSNP: rs774495753
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770021 SCV000901447 uncertain significance Cardiomyopathy 2016-04-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002442575 SCV002733334 uncertain significance Cardiovascular phenotype 2019-06-07 criteria provided, single submitter clinical testing The p.M7525I variant (also known as c.22575G>C), located in coding exon 92 of the TTN gene, results from a G to C substitution at nucleotide position 22575. The methionine at codon 7525 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is not 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.
Fulgent Genetics, Fulgent Genetics RCV002500992 SCV002809974 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 2021-09-14 criteria provided, single submitter clinical testing

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