ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.45001A>C (p.Asn15001His)

dbSNP: rs373109469
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000154946 SCV000204628 uncertain significance not specified 2014-11-28 criteria provided, single submitter clinical testing The p.Asn12433His variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/8260 European American chromo somes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs373109469). The affected amino acid is poorly conserved in evolution and many fish species carry a Histidine (His), raising the possibility that this ch ange is benign. However, additional data is needed to establish this variant's clinical significance.
Invitae RCV000230282 SCV000286671 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-04-07 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000725548 SCV000701018 uncertain significance not provided 2017-02-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765572 SCV000896887 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2018-10-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000725548 SCV003824196 uncertain significance not provided 2019-08-29 criteria provided, single submitter clinical testing

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