ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.6844T>C (p.Tyr2282His)

gnomAD frequency: 0.00001  dbSNP: rs727503691
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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 RCV000152497 SCV000201648 uncertain significance not specified 2013-08-22 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Tyr2282His vari ant in TTN has not been reported in individuals with cardiomyopathy or in large population studies. Tyrosine (Tyr) at position 2282 is not conserved among mamma ls or evolutionarily distant species, which suggests that a change at this posit ion may be tolerated. Additional computational analyses (biochemical amino acid properties, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. While the lack of conservation across many sp ecies suggests that this variant is more likely benign, additional information i s needed to fully assess its clinical significance.

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