ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.9443G>A (p.Arg3148His) (rs368786036)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000714122 SCV000844797 uncertain significance not provided 2018-04-02 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000714122 SCV000114502 uncertain significance not provided 2013-07-23 criteria provided, single submitter clinical testing
GeneDx RCV000082469 SCV000616937 uncertain significance not specified 2017-09-07 criteria provided, single submitter clinical testing The R3148H variant in the TTN gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R3148H variant is not observed in the homozygous state, or at a significant frequency, in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R3148H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret R3148H as a variant of uncertain significance.
GenomeConnect, ClinGen RCV000709826 SCV000840155 not provided Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J; Hereditary myopathy with early respiratory failure; Myopathy, early-onset, with fatal cardiomyopathy; Familial hypertrophic cardiomyopathy 9 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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