ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.54324T>C (p.Ser18108=)

gnomAD frequency: 0.00001  dbSNP: rs397517619
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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 RCV000040359 SCV000064050 likely benign not specified 2012-04-05 criteria provided, single submitter clinical testing Ser15540Ser in exon 230 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. Ser15540Ser in exon 230 of TTN (allele freq uency = n/a)
Labcorp Genetics (formerly Invitae), Labcorp RCV001495784 SCV001700473 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2018-11-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004991994 SCV005528147 likely benign Cardiovascular phenotype 2024-09-15 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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