ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.66442G>A (p.Ala22148Thr)

gnomAD frequency: 0.00001  dbSNP: rs794727433
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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) RCV000176707 SCV000228407 uncertain significance not provided 2014-11-06 criteria provided, single submitter clinical testing
GeneDx RCV000176707 SCV001994680 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 at a significant frequency in large population cohorts (Lek et al., 2016); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; Reported in ClinVar as a variant of uncertain significance but additional evidence is not available (SCV000228407.5; Landrum et al., 2016)

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