ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.12416A>G (p.His4139Arg)

gnomAD frequency: 0.00001  dbSNP: rs72648920
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000456948 SCV000542488 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-12-30 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000731806 SCV000859658 uncertain significance not provided 2018-02-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002323679 SCV002610801 uncertain significance Cardiovascular phenotype 2019-12-19 criteria provided, single submitter clinical testing The p.H3776R variant (also known as c.11327A>G), located in coding exon 44 of the TTN gene, results from an A to G substitution at nucleotide position 11327. The histidine at codon 3776 is replaced by arginine, an amino acid with highly 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 RCV002481374 SCV002791817 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 2021-09-06 criteria provided, single submitter clinical testing

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