ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88558_88559del (p.Gly29520fs)

dbSNP: rs1575551371
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008275 SCV001168041 likely pathogenic not provided 2018-07-27 criteria provided, single submitter clinical testing The c.83635_83636delGG variant in the TTN gene has not been published as pathogenic or benign to our knowledge. This variant causes a shift in reading frame starting at codon Glycine 27879, changing it to a Leucine, and creating a premature stop codon at position 12 of the new reading frame, denoted p.Gly27879LeufsX12. This variant is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other truncating TTN variants have been reported in approximately 3% of control alleles (Herman et al., 2012). However, c.83635_83636delGG is located in the A-band region of titin, where the majority of truncating pathogenic variants associated with DCM have been reported (Herman et al., 2012). Moreover, the c.83635_83636delGG variant is not observed in large population cohorts (Lek et al., 2016).

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