ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.66804G>A (p.Arg22268=)

gnomAD frequency: 0.00003  dbSNP: rs370501197
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Total submissions: 3
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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 RCV000222453 SCV000271064 likely benign not specified 2015-10-01 criteria provided, single submitter clinical testing p.Arg19700Arg in exon 266 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 1/9250 African c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs370501197).
Ambry Genetics RCV002354601 SCV002619517 likely benign Cardiovascular phenotype 2022-09-12 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003765384 SCV004569382 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-11-12 criteria provided, single submitter clinical testing

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