ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.2535G>T (p.Glu845Asp)

gnomAD frequency: 0.00001  dbSNP: rs768608500
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596809 SCV000707103 uncertain significance not provided 2017-03-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765593 SCV000896908 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
Ambry Genetics RCV002456309 SCV002737291 likely benign Cardiovascular phenotype 2020-05-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Revvity Omics, Revvity RCV000596809 SCV003824250 uncertain significance not provided 2021-07-01 criteria provided, single submitter clinical testing

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