ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.97859C>T (p.Ala32620Val) (rs397517772)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619770 SCV000735736 likely benign Cardiovascular phenotype 2017-01-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification
Illumina Clinical Services Laboratory,Illumina RCV000303221 SCV000420493 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000346361 SCV000420494 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393698 SCV000420495 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000308086 SCV000420496 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000369817 SCV000420497 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000277556 SCV000420498 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040860 SCV000064551 uncertain significance not specified 2011-12-21 criteria provided, single submitter clinical testing The Ala30052Val variant (TTN) has not been previously reported nor previously id entified by our laboratory. Alanine (Ala) at position 30052 is highly conserved across evolutionarily distant species, increasing the likelihood that a change w ould not be tolerated. Computational predictions on the impact to the protein ar e mixed (AlignGVGD = benign, SIFT = pathogenic), though the accuracy of these to ols is unknown. Additional information is needed to fully assess the clinical si gnificance of the Ala30052Val variant.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.