ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.103913G>A (p.Arg34638His) (rs371528685)

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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 RCV000215601 SCV000272832 uncertain significance not specified 2015-06-25 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Arg32070His v ariant in TTN has not been previously reported in individuals with cardiomyopath y, but has been identified in 0.1% (18/16510) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs3715 28685). One mammal (pika) carries a histidine (His) at this position, raising th e possibility that this change may be tolerated. Additional computational predic tion tools do not provide strong support for or against an impact to the protein . In summary, while the clinical significance of the p.Arg32070His variant is un certain, its frequency and lack of conservation suggests that it is more likely to be benign.
Illumina Clinical Services Laboratory,Illumina RCV000318098 SCV000420133 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375123 SCV000420134 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278285 SCV000420135 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000335727 SCV000420136 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000404751 SCV000420137 uncertain significance Myopathy, myofibrillar, 9, with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000296405 SCV000420138 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000215601 SCV000719877 likely benign not specified 2017-06-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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