ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.95848G>A (p.Glu31950Lys)

dbSNP: rs727505199
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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 RCV000156692 SCV000206413 uncertain significance not specified 2014-08-07 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Glu29382Lys var iant in TTN has not been previously reported in individuals with cardiomyopathy or in large population studies. Glutamic acid (Glu) at position 29382 is conserv ed in most mammals and evolutionarily distant species except for 1 primate (gori lla), which carries a lysine (Lys) at this position raising the possibility that this change may be tolerated. Additional computational prediction tools do not provide strong support for or against an impact to the protein. In summary, whil e the clinical significance of the Glu29382Lys variant is uncertain, the presenc e of the variant amino acid in other primates suggests that it is more likely to be benign.

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