ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.70686C>T (p.Ser23562=)

gnomAD frequency: 0.00002  dbSNP: rs371481540
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Total submissions: 2
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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 RCV000213800 SCV000271070 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Ser20994Ser in exon 275 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 1/3424 African A merican chromosomes from a broad population by the NHLBI Exome Sequencing Projec t (http://evs.gs.washington.edu/EVS).
Ambry Genetics RCV002327084 SCV002627903 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: 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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