ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.58692T>G (p.Asp19564Glu)

gnomAD frequency: 0.00003  dbSNP: rs1236959839
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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) RCV000730920 SCV000858687 uncertain significance not provided 2017-12-14 criteria provided, single submitter clinical testing
GeneDx RCV000730920 SCV005384142 uncertain significance not provided 2023-12-26 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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