ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.1213G>A (p.Ala405Thr) (rs112266780)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000467044 SCV000555370 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-10-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare 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.

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