ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.100704C>A (p.Tyr33568Ter) (rs1553501227)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578936 SCV000681304 likely pathogenic not provided 2018-09-12 criteria provided, single submitter clinical testing The Y31000X variant is not observed in large population cohorts (Lek et al., 2016). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although Y31000X has not been previously reported to our knowledge, other nonsense variants in the TTN gene have been reported in the Human Gene Mutation Database in association with TTN-related disorders (Stenson et al., 2014). Additionally, the Y31000X variant is located in the A-band of the titin protein, where the majority of pathogenic truncating variants have been reported.
GenomeConnect, ClinGen RCV000844995 SCV000986825 not provided Hereditary myopathy with early respiratory failure no assertion provided phenotyping only Variant interpretted as Likely pathogenic and reported on 01/12/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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