ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.98641C>T (p.Pro32881Ser) (rs367979582)

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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 RCV000172178 SCV000054876 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000213432 SCV000271116 likely benign not specified 2015-07-02 criteria provided, single submitter clinical testing p.Pro30313Ser in exon 301 of TTN: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, 3 mammals (chimp, dog, and black flying fox) as well as multiple bird, re ptile, and fish species have a serine (Ser) at this position, despite high nearb y amino acid conservation. In addition, this variant has been identified in 0.1% (9/8602) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, h ttp://exac.broadinstitute.org; dbSNP rs367979582).
Illumina Clinical Services Laboratory,Illumina RCV000278672 SCV000420427 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000343230 SCV000420428 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000399380 SCV000420429 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284749 SCV000420430 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000339727 SCV000420431 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393696 SCV000420432 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000213432 SCV000616199 uncertain significance not specified 2017-03-03 criteria provided, single submitter clinical testing
Invitae RCV000527211 SCV000643992 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-04-20 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000172178 SCV000705225 uncertain significance not provided 2017-01-11 criteria provided, single submitter clinical testing

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