ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.54818C>T (p.Pro18273Leu) (rs201035511)

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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 RCV000172661 SCV000054985 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040367 SCV000064058 uncertain significance not specified 2015-05-20 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Pro15705Leu v ariant in TTN has been identified by our laboratory in 1 Caucasian adult with DC M, who carried a pathogenic variant in a different gene. This variant has been i dentified in 0.1% (16/16210) of European chromosomes by the Exome Aggregation Co nsortium (ExAC, http://exac.broadinstitute.org; dbSNP rs201035511). Computationa l prediction tools and conservation analysis suggest that the p.Pro15705Leu vari ant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, while the clinical significance of the p.Pr o15705Leu variant is uncertain, its frequency suggests that it is more likely to be benign.
GeneDx RCV000040367 SCV000237308 likely benign not specified 2017-10-26 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000172661 SCV000338523 uncertain significance not provided 2016-04-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000388261 SCV000422773 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000260976 SCV000422774 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000316224 SCV000422775 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375984 SCV000422776 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000281399 SCV000422777 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341213 SCV000422778 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000172661 SCV000555151 likely benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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