ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.30684dup (p.Thr10229fs)

dbSNP: rs1560473916
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000778576 SCV000914880 uncertain significance TTN-Related Disorders 2018-12-18 criteria provided, single submitter clinical testing The TTN c.26952dupT (p.Thr8985TyrfsTer23) variant results in a frameshift and is predicted to result in an absent or prematurely truncated protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the 1000 Genomes Project, Exome Sequencing Project, Exome Aggregation Consortium, or Genome Aggregation Database. Due to the potential impact of frameshift variants and the lack of clarifying evidence, the p.Thr8985TyrfsTer23 variant is classified as a variant of unknown significance but suspicious for pathogenicity for TTN-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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