ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.70243A>C (p.Met23415Leu)

gnomAD frequency: 0.00001  dbSNP: rs200029470
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471107 SCV000543094 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-07-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002329025 SCV002627545 uncertain significance Cardiovascular phenotype 2019-01-17 criteria provided, single submitter clinical testing The p.M14350L variant (also known as c.43048A>C), located in coding exon 153 of the TTN gene, results from an A to C substitution at nucleotide position 43048. The methionine at codon 14350 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and leucine is the reference amino acid in other 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 RCV002481384 SCV002779997 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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