ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.85351C>T (p.Pro28451Ser)

gnomAD frequency: 0.00001  dbSNP: rs727503554
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Total submissions: 1
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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 RCV000152200 SCV000200956 uncertain significance not specified 2014-02-06 criteria provided, single submitter clinical testing The Pro25883Ser variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational analyses (bioc hemical amino acid properties, conservation, AlignGVGD, and PolyPhen-2) do not p rovide strong support for or against an impact to the protein. In summary, addit ional information is needed to fully assess the clinical significance of this va riant.

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