ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.68218C>T (p.Pro22740Ser)

dbSNP: rs886039082
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000247192 SCV000319969 likely benign Cardiovascular phenotype 2021-08-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000526468 SCV000643574 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-01-21 criteria provided, single submitter clinical testing
GeneDx RCV000828869 SCV000970571 uncertain significance not provided 2020-12-01 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
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798754 SCV002042613 likely benign Cardiomyopathy 2023-02-24 criteria provided, single submitter clinical testing

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