ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52414G>A (p.Asp17472Asn)

gnomAD frequency: 0.00001  dbSNP: rs727503614
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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 RCV000152329 SCV000201219 uncertain significance not specified 2013-06-05 criteria provided, single submitter clinical testing The Asp14904Asn variant in TTN has not been reported in individuals with cardiom yopathy. Data from large population studies is insufficient to assess the freque ncy of this variant. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information is needed to fully a ssess the clinical significance of this variant.

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