ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.98034T>C (p.Cys32678=)

gnomAD frequency: 0.00001  dbSNP: rs727504928
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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 RCV000156321 SCV000206039 likely benign not specified 2014-03-10 criteria provided, single submitter clinical testing Cys30110Cys in exon 300 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. Cys30110Cys in exon 300 of TTN (allele freq uency = n/a)
Ambry Genetics RCV002362829 SCV002662550 likely benign Cardiovascular phenotype 2020-11-12 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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