ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.5373C>A (p.Thr1791=)

gnomAD frequency: 0.00002  dbSNP: rs727503693
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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 RCV000152501 SCV000201665 likely benign not specified 2013-08-13 criteria provided, single submitter clinical testing Thr1791Thr in exon 28 of TTN: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. Thr1791Thr in exon 28 of TTN: (allele freque ncy = n/a)
Eurofins Ntd Llc (ga) RCV000724889 SCV000332165 uncertain significance not provided 2015-06-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000548358 SCV000643344 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-27 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000152501 SCV001433118 benign not specified 2020-02-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336307 SCV002645348 likely benign Cardiovascular phenotype 2019-06-01 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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