ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.81297T>C (p.Asp27099=)

gnomAD frequency: 0.00002  dbSNP: rs727505134
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Total submissions: 4
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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 RCV000156596 SCV000206315 likely benign not specified 2014-06-30 criteria provided, single submitter clinical testing Asp24531Asp in exon 275 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.
Invitae RCV002053883 SCV002360938 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-05-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV003162643 SCV003883360 likely benign Cardiovascular phenotype 2023-02-27 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.
PreventionGenetics, part of Exact Sciences RCV003895064 SCV004709378 likely benign TTN-related condition 2023-12-11 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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