ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.15416G>T (p.Arg5139Met)

gnomAD frequency: 0.04824  dbSNP: rs66677602
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000041055 SCV000051769 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041055 SCV000064746 benign not specified 2012-03-23 criteria provided, single submitter clinical testing Arg5139Met in exon 45A of TTN: This variant is not expected to have clinical sig nificance because it has been identified in 4.5% (316/7018) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS/; dbSNP rs66677602)
GeneDx RCV000041055 SCV000169566 benign not specified 2013-11-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Breakthrough Genomics, Breakthrough Genomics RCV004709216 SCV005241359 benign not provided criteria provided, single submitter not provided

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