ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.66895A>G (p.Asn22299Asp)

dbSNP: rs1559497706
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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) RCV000733063 SCV000861082 uncertain significance not provided 2018-04-25 criteria provided, single submitter clinical testing
GeneDx RCV000733063 SCV001993011 uncertain significance not provided 2019-06-28 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, 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.; Located in the A-band of the titin protein, where the majority of pathogenic truncating variants have been reported

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