ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.53744G>A (p.Arg17915Gln)

gnomAD frequency: 0.00006  dbSNP: rs758896047
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000526639 SCV000643345 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-06-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002431629 SCV002743766 uncertain significance Cardiovascular phenotype 2017-09-19 criteria provided, single submitter clinical testing The p.R8850Q variant (also known as c.26549G>A), located in coding exon 106 of the TTN gene, results from a G to A substitution at nucleotide position 26549. The arginine at codon 8850 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and glutamine 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 RCV002491043 SCV002779042 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 2021-09-02 criteria provided, single submitter clinical testing

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