ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.97051G>A (p.Glu32351Lys)

gnomAD frequency: 0.00001  dbSNP: rs727504879
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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 RCV000156250 SCV000205966 uncertain significance not specified 2013-12-26 criteria provided, single submitter clinical testing The Glu29783Lys variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Glutamic Acid (Glu) at positi on 29783 is not conserved in mammals or evolutionarily distant species, raising the possibility that a change at this position may be tolerated. Additional comp utational analyses (biochemical amino acid properties, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. In summary, additional information is needed to fully assess the clinical signific ance of the Glu28783Lys variant.
Mayo Clinic Laboratories, Mayo Clinic RCV001508102 SCV001714029 uncertain significance not provided 2020-07-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002484949 SCV002790160 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 2021-12-06 criteria provided, single submitter clinical testing

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