ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.5464A>C (p.Met1822Leu)

gnomAD frequency: 0.00021  dbSNP: rs201581947
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000714053 SCV000238005 likely benign not provided 2021-11-23 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000714053 SCV000700994 uncertain significance not provided 2017-04-06 criteria provided, single submitter clinical testing
Invitae RCV001079944 SCV000765136 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-24 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000714053 SCV000844718 likely benign not provided 2018-05-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345663 SCV002643166 likely benign Cardiovascular phenotype 2019-11-15 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.
Revvity Omics, Revvity RCV000714053 SCV003820269 uncertain significance not provided 2022-04-25 criteria provided, single submitter clinical testing

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