ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.98544C>G (p.Ser32848=)

gnomAD frequency: 0.00006  dbSNP: rs756591209
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000250057 SCV000319855 likely benign Cardiovascular phenotype 2015-06-29 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.
GeneDx RCV001705394 SCV000529988 likely benign not provided 2020-10-16 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000419070 SCV000712046 likely benign not specified 2016-04-26 criteria provided, single submitter clinical testing p.Ser30280Ser in exon 301 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 4/66738 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; dbSNP rs756591209).
Labcorp Genetics (formerly Invitae), Labcorp RCV001459883 SCV001663737 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000419070 SCV002050767 likely benign not specified 2021-12-04 criteria provided, single submitter clinical testing

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