ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.1585G>A (p.Ala529Thr) (rs143030869)

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Total submissions: 10
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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 RCV000172492 SCV000055120 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000172492 SCV000706794 uncertain significance not provided 2017-03-07 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000345372 SCV000425240 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392830 SCV000425241 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000305734 SCV000425242 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000358208 SCV000425243 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000266151 SCV000425244 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000300150 SCV000425245 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000643424 SCV000765111 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155016 SCV000204699 likely benign not specified 2013-08-22 criteria provided, single submitter clinical testing Ala529Thr in exon 10 of TTN: This variant is not expected to have clinical signi ficance due to a lack of conservation in mammals and across species. Of note, >1 0 mammals have a threonine (Thr; this variant) at this position despite high nea rby amino acid conservation. In addition, computational analyses (AlignGVGD, Pol yPhen2, SIFT) do not suggest a high likelihood of impact to the protein. This va riant has been identified in 1/4398 African American chromosomes and 1/8592 Euro pean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs143030869).

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