ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.49189G>A (p.Val16397Met)

gnomAD frequency: 0.00001  dbSNP: rs397517595
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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 RCV000040297 SCV000063988 uncertain significance not specified 2012-10-03 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Val13829Met var iant in TTN has not been reported in the literature nor previously identified by our laboratory. The affected amino acid is not well conserved in evolution with several mammals (dolphin, cow, horse, microbat) carrying a methionine (Met; thi s variant) at this position despite high conservation of nearby amino acids. Th is suggests that this change may be tolerated. This variant is less likely disea se causing but additional studies are needed to fully assess its clinical signif icance.

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