ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.63887G>A (p.Ser21296Asn)

gnomAD frequency: 0.00006  dbSNP: rs727503583
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Total submissions: 2
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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 RCV000152258 SCV000201088 uncertain significance not specified 2013-07-18 criteria provided, single submitter clinical testing The Ser18728Asn variant in TTN has not been reported in individuals with cardiom yopathy or in large population studies. Computational analyses (biochemical amin o acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information i s needed to fully assess the clinical significance of this variant.
Revvity Omics, Revvity RCV003137653 SCV003824863 uncertain significance not provided 2019-03-23 criteria provided, single submitter clinical testing

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