ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.102213A>G (p.Pro34071=)

gnomAD frequency: 0.00001  dbSNP: rs879066988
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001453892 SCV001657601 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-11-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002396055 SCV002669006 likely benign Cardiovascular phenotype 2020-05-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV005405609 SCV006066831 likely benign not specified 2025-04-09 criteria provided, single submitter clinical testing

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