ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.74673G>C (p.Lys24891Asn)

dbSNP: rs727504855
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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 RCV000156204 SCV000205920 uncertain significance not specified 2013-11-22 criteria provided, single submitter clinical testing The Lys22323Asn variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational analyses (bioch emical amino acid properties, conservation, AlignGVGD, and SIFT) do not provide strong support for or against an impact to the protein. Additional information i s needed to assess the clinical significance of this variant.

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