ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.66769+1G>A

dbSNP: rs1057521946
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000435705 SCV000525201 likely pathogenic not provided 2016-03-31 criteria provided, single submitter clinical testing A likely pathogenic variant has been identified in the TTN gene. The c.59065+1 G>A 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 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant is located in the A-band of the titin protein, where the majority of truncating variants associated with disease are located. The c.59065+1 G>A splice site variant gene destroys the canonical splice donor site in intron 265; however the adjacent exon 265 remains in-frame. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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