ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.83820C>T (p.Asn27940=)

gnomAD frequency: 0.00009  dbSNP: rs727503555
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Total submissions: 5
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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 RCV000152201 SCV000200958 likely benign not specified 2014-02-27 criteria provided, single submitter clinical testing p.Asn25373Asn 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.
GeneDx RCV001697050 SCV000716473 likely benign not provided 2018-05-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000643412 SCV000765099 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-02-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000152201 SCV001482188 likely benign not specified 2021-02-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345479 SCV002653805 likely benign Cardiovascular phenotype 2018-09-17 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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