ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.90427G>C (p.Val30143Leu)

dbSNP: rs1287481084
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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) RCV000727730 SCV000855088 uncertain significance not provided 2018-01-04 criteria provided, single submitter clinical testing
GeneDx RCV000727730 SCV001997510 uncertain significance not provided 2020-01-06 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); Located in the A-band of the titin protein, where the majority of pathogenic truncating variants have been reported; Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function

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