ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.62100T>G (p.Asn20700Lys)

dbSNP: rs997630345
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001763251 SCV001990632 uncertain significance not provided 2019-03-27 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 gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Missense variant, located within the A band, in a gene in which most reported pathogenic variants are truncating/loss-of-function

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