ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.99712C>T (p.Gln33238Ter)

dbSNP: rs1131691383
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493572 SCV000582014 pathogenic not provided 2017-11-28 criteria provided, single submitter clinical testing The Q31597X pathogenic variant in the TTN gene has not been reported as a pathogenic variant or as a benign variant to our knowledge. Q31597X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other truncating TTN variants have been reported in approximately 3% of control alleles (Herman et al., 2012). However, Q31597X is located in the A-band region of titin, where the majority of truncating variants associated with DCM have been reported (Herman et al., 2012). Furthermore, Q31597X is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).

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