ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.51379G>T (p.Val17127Phe)

dbSNP: rs397517603
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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 RCV000040322 SCV000064013 uncertain significance not specified 2012-05-24 criteria provided, single submitter clinical testing The Val14559Phe variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. This variant has not been identified in a ve ry large and broad population by the NHLBI Exome Sequencing Project (http://evs. gs.washington.edu/EVS). This low frequency is consistent with a disease causing role, but insufficient to establish this with confidence. Valine at position 145 59 is not well conserved in evolution, suggesting that a change may be tolerated . Other computational analyses (biochemical amino acid properties, AlignGVGD, Po lyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information is needed to fully assess the clinical signific ance of the Val14559Phe variant.
Eurofins Ntd Llc (ga) RCV000730360 SCV000858090 uncertain significance not provided 2017-11-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490563 SCV002784271 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 2021-08-18 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000730360 SCV001919122 uncertain significance not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000730360 SCV001932533 uncertain significance not provided no assertion criteria provided clinical testing

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