ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.14783T>C (p.Leu4928Pro)

dbSNP: rs1347273297
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001772761 SCV001993388 uncertain significance not provided 2019-08-16 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes splice predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; 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
Revvity Omics, Revvity RCV001772761 SCV003819643 uncertain significance not provided 2020-02-04 criteria provided, single submitter clinical testing

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