ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.66240A>C (p.Ala22080=)

gnomAD frequency: 0.00002  dbSNP: rs375181938
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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 RCV000218949 SCV000271063 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Ala19512Ala in exon 264 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 1/3052 African A merican chromosomes from a broad population by the NHLBI Exome Sequencing Projec t (http://evs.gs.washington.edu/EVS).
Labcorp Genetics (formerly Invitae), Labcorp RCV001475057 SCV001679240 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-10-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372222 SCV002623938 likely benign Cardiovascular phenotype 2021-05-03 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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