ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.26755G>A (p.Val8919Ile)

gnomAD frequency: 0.00002  dbSNP: rs774905023
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729867 SCV000857560 uncertain significance not provided 2017-10-20 criteria provided, single submitter clinical testing
GeneDx RCV000729867 SCV005333629 uncertain significance not provided 2024-01-23 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge; Located in a region of TTN within the I-band in which the majority of loss of function variants are significantly associated with autosomal dominant titinopathies (PMID: 27625338, 27869827)

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