ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.1213G>A (p.Ala405Thr)

gnomAD frequency: 0.00011  dbSNP: rs112266780
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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 RCV000152532 SCV000201724 uncertain significance not specified 2014-06-26 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Ala405Thr varia nt in TTN has not been previously reported in individuals with cardiomyopathy. I t has also been identified in 1/10 Southern African chromosomes in the Bushman p opulation (dbSNP rs112266780). Computational prediction tools and conservation a nalysis suggest that this variant may not impact the protein (several mammals ca rry the variant amino acid), though this information is not predictive enough to rule out pathogenicity. In summary, while the clinical significance of the Ala4 05Thr variant is uncertain, these data suggest that it is more likely to be beni gn.
Labcorp Genetics (formerly Invitae), Labcorp RCV000467044 SCV000555370 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-03 criteria provided, single submitter clinical testing
GeneDx RCV001531517 SCV001788088 likely benign not provided 2020-11-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354353 SCV002657170 benign Cardiovascular phenotype 2020-08-11 criteria provided, single submitter clinical testing This alteration is classified as 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.
PreventionGenetics, part of Exact Sciences RCV004544383 SCV004764441 likely benign TTN-related disorder 2019-10-22 no assertion criteria provided 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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