ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.47846T>C (p.Leu15949Pro)

dbSNP: rs2057493473
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002222824 SCV002499908 uncertain significance not provided 2021-10-14 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; 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; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Revvity Omics, Revvity RCV002222824 SCV003823559 uncertain significance not provided 2019-05-28 criteria provided, single submitter clinical testing

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