ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.48457G>T (p.Ala16153Ser)

dbSNP: rs876658063
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Total submissions: 3
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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 RCV000214620 SCV000272660 uncertain significance not specified 2015-05-16 criteria provided, single submitter clinical testing The p.Ala13585Ser variant in TTN has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction to ols and conservation analysis suggest that the variant may impact the protein, t hough this information is not predictive enough to determine pathogenicity. In s ummary, the clinical significance of the p.Ala13585Ser variant is uncertain.
Fulgent Genetics, Fulgent Genetics RCV002494575 SCV002790088 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 2021-11-15 criteria provided, single submitter clinical testing
GeneDx RCV003327384 SCV004034861 uncertain significance not provided 2023-03-06 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; Has not been previously published as pathogenic or benign to our knowledge

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