ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.19672G>A (p.Val6558Ile)

gnomAD frequency: 0.00004  dbSNP: rs879223660
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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) RCV000594373 SCV000709187 uncertain significance not provided 2017-06-07 criteria provided, single submitter clinical testing
GeneDx RCV000594373 SCV001992570 uncertain significance not provided 2019-05-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; Not located in the A-band nor the M-line region of titin, where the majority of pathogenic truncating variants have been reported; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function

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