ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.63285G>A (p.Pro21095=)

gnomAD frequency: 0.00002  dbSNP: rs760168563
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769985 SCV000901411 uncertain significance Cardiomyopathy 2015-11-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067213 SCV002452503 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-12-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002458377 SCV002615078 likely benign Cardiovascular phenotype 2021-09-21 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.
CeGaT Center for Human Genetics Tuebingen RCV003437425 SCV004152340 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing TTN: BP4, BP7

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