ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.103364G>A (p.Arg34455His)

gnomAD frequency: 0.00003  dbSNP: rs756023873
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000459821 SCV000543101 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-10-29 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000768833 SCV000900206 uncertain significance Cardiomyopathy 2016-09-14 criteria provided, single submitter clinical testing
GeneDx RCV001556132 SCV001777657 uncertain significance not provided 2019-10-18 criteria provided, single submitter clinical testing 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; Has not been previously published as pathogenic or benign to our knowledge

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