ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.54201C>T (p.Ser18067=)

gnomAD frequency: 0.00002  dbSNP: rs397517618
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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 RCV000040357 SCV000064048 likely benign not specified 2012-02-09 criteria provided, single submitter clinical testing Ser15499Ser in exon 230 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue. Ser15499Ser in exo n 230 of TTN (allele frequency = n/a)
Ambry Genetics RCV002426580 SCV002742843 likely benign Cardiovascular phenotype 2019-06-07 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.
Invitae RCV002513564 SCV003019775 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-07-18 criteria provided, single submitter clinical testing

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