ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.65173G>A (p.Val21725Ile) (rs368716894)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000222014 SCV000271058 likely benign not specified 2015-06-22 criteria provided, single submitter clinical testing p.Val19157Ile in exon 260 of TTN: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, 10 mammals have a isoleucine (Ile) at this position despite high nearby a mino acid conservation. In addition, computational prediction tools do not sugge st a high likelihood of impact to the protein. It has been identified in 4/66388 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs368716894).
Illumina Clinical Services Laboratory,Illumina RCV000267310 SCV000422293 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000324683 SCV000422294 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000376978 SCV000422295 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284705 SCV000422296 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318684 SCV000422297 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375713 SCV000422298 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000731696 SCV000859544 uncertain significance not provided 2018-02-11 criteria provided, single submitter clinical testing

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