ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.76673A>T (p.Asp25558Val) (rs201095164)

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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 RCV000172252 SCV000051280 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040618 SCV000064309 uncertain significance not specified 2012-05-11 criteria provided, single submitter clinical testing The Asp22990Val variant in TTN has not been previously reported in the literatur e, but has been reported in 1 individual with DCM (this individual's daughter) t ested by our laboratory. This variant has also been identified in 1/6672 Europea n American chromosomes from a broad population by the NHBLI Exome Sequencing Pro ject (http://evs.gs.washington.edu/EVS). Computational analyses (biochemical ami no acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information is needed to fully assess the clinical significance of the Asp22990Val variant.
Illumina Clinical Services Laboratory,Illumina RCV000400010 SCV000421723 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000306562 SCV000421724 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000365850 SCV000421725 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000271372 SCV000421726 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303107 SCV000421727 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000358262 SCV000421728 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000040618 SCV000616146 uncertain significance not specified 2017-02-07 criteria provided, single submitter clinical testing
Invitae RCV000172252 SCV001004869 likely benign not provided 2019-02-12 criteria provided, single submitter clinical testing

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