ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.61670A>G (p.His20557Arg)

dbSNP: rs1472565206
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000643777 SCV000765464 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-10-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002458076 SCV002617032 uncertain significance Cardiovascular phenotype 2017-12-26 criteria provided, single submitter clinical testing The p.H11492R variant (also known as c.34475A>G), located in coding exon 131 of the TTN gene, results from an A to G substitution at nucleotide position 34475. The histidine at codon 11492 is replaced by arginine, 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 RCV002493018 SCV002800815 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 2021-10-29 criteria provided, single submitter clinical testing

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