ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.82081C>G (p.Pro27361Ala) (rs56137800)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000241922 SCV000319988 benign Cardiovascular phenotype 2015-09-04 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172629 SCV000051127 likely benign not provided 2013-06-24 criteria provided, single submitter research
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768907 SCV000900280 likely benign Cardiomyopathy 2016-08-23 criteria provided, single submitter clinical testing
GeneDx RCV000040677 SCV000237623 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 RCV000295120 SCV000421423 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000334811 SCV000421424 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000373133 SCV000421425 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000280957 SCV000421426 likely benign Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000338290 SCV000421427 likely benign Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402006 SCV000421428 likely benign Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000234422 SCV000286858 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-09-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040677 SCV000064368 likely benign not specified 2012-06-01 criteria provided, single submitter clinical testing Pro24739Ala in exon 275 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 1.7% (10/572) of Asian chromosomes from a broad population by the 1000 Genomes Project (dbSNP rs56137800). Pro24 739Ala in exon 275 of TTN (rs56137800; allele frequency = 1.7%, 10/572)

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