ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.92666G>A (p.Gly30889Asp)

gnomAD frequency: 0.00002  dbSNP: rs727505280
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Total submissions: 6
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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 RCV000156809 SCV000206530 uncertain significance not specified 2014-09-10 criteria provided, single submitter clinical testing The Gly28321Asp variant in TTN has not been previously reported in individuals w ith cardiomyopathy and was absent from large population studies. Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the G ly28321Asp variant is uncertain.
Eurofins Ntd Llc (ga) RCV000725972 SCV000340923 uncertain significance not provided 2016-04-19 criteria provided, single submitter clinical testing
Invitae RCV000476481 SCV000543003 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-04-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002484958 SCV002803902 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 2021-11-04 criteria provided, single submitter clinical testing
GeneDx RCV000725972 SCV003805464 uncertain significance not provided 2023-02-09 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; This variant is associated with the following publications: (PMID: 29420653)
Revvity Omics, Revvity RCV000725972 SCV003824779 uncertain significance not provided 2022-10-04 criteria provided, single submitter clinical testing

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