ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.66480G>A (p.Pro22160=)

gnomAD frequency: 0.00006  dbSNP: rs372814670
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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 RCV000040505 SCV000064196 likely benign not specified 2012-04-18 criteria provided, single submitter clinical testing Pro19592Pro in Exon 265 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence and it has been identified in 1/6572 European Am erican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS;). Pro19592Pro in Exon 265 of TTN (allele fr equency = 0.01%, 1/6572) **
Labcorp Genetics (formerly Invitae), Labcorp RCV000559641 SCV000643545 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-06-12 criteria provided, single submitter clinical testing
GeneDx RCV001546599 SCV001766141 likely benign not provided 2020-02-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002371841 SCV002623753 likely benign Cardiovascular phenotype 2020-02-27 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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