ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.15178G>A (p.Val5060Ile) (rs72648929)

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Total submissions: 11
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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 RCV000172699 SCV000051206 likely benign not provided 2013-06-24 criteria provided, single submitter research
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769082 SCV000900455 likely benign Cardiomyopathy 2016-08-23 criteria provided, single submitter clinical testing
GeneDx RCV000039868 SCV000238213 benign not specified 2017-04-10 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.
Illumina Clinical Services Laboratory,Illumina RCV000383931 SCV000424688 likely benign Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000291829 SCV000424689 likely benign Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321222 SCV000424690 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000378176 SCV000424691 likely benign Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000286158 SCV000424692 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000343458 SCV000424693 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000226609 SCV000286452 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2018-01-07 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039868 SCV000063559 likely benign not specified 2012-06-01 criteria provided, single submitter clinical testing Val3816Ile in exon 48 of TTN: This variant is not expected to have clinical sign ificance because it has been identified in 1.7% (10/572) of Asian chromosomes fr om a broad population by the 1000 Genomes Project (dbSNP rs72648929). Val3816 Ile in exon 48 of TTN (rs72648929; allele frequency = 1.7%, 10/572)

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