ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.100047A>C (p.Thr33349=)

gnomAD frequency: 0.00002  dbSNP: rs727504698
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155976 SCV000205688 likely benign not specified 2013-10-14 criteria provided, single submitter clinical testing Thr30781Thr in exon 305 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. Thr30781Thr in exon 305 of TTN (allele freq uency = n/a)
Labcorp Genetics (formerly Invitae), Labcorp RCV000642912 SCV000764599 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-04 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000768839 SCV000900212 uncertain significance Cardiomyopathy 2015-09-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV004019869 SCV005020965 likely benign Cardiovascular phenotype 2024-01-17 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.

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