ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.95806G>A (p.Asp31936Asn)

gnomAD frequency: 0.00004  dbSNP: rs267599025
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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 RCV000152177 SCV000200909 uncertain significance not specified 2014-01-02 criteria provided, single submitter clinical testing The Asp29368Asn variant in TTN has not been reported in individuals with cardiom yopathy or in large population studies. Computational analyses (biochemical amin o acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information i s needed to fully assess the clinical significance of the Asp29368Asn variant.
Invitae RCV000233187 SCV000286935 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-01-29 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000732253 SCV000860178 uncertain significance not provided 2018-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490668 SCV002781574 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 2021-09-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000732253 SCV003821209 uncertain significance not provided 2023-09-24 criteria provided, single submitter clinical testing

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