ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.16462A>T (p.Lys5488Ter)

dbSNP: rs1553926191
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579229 SCV000680821 uncertain significance not provided 2016-03-12 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the TTN gene. The K4244X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The K4244X nonsense variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. However, this variant is not located in the A-band nor the M-line region of titin, where the majority of truncating variants associated with disease have been reported. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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