ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.12547A>G (p.Lys4183Glu)

gnomAD frequency: 0.00010  dbSNP: rs201565932
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Total submissions: 3
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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 RCV000213210 SCV000272863 uncertain significance not specified 2015-04-04 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Lys3945Glu va riant in TTN has not been previously reported in individuals with cardiomyopathy , but has been identified in 16/66676 European chromosomes by the Exome Aggregat ion Consortium (http://exac.broadinstitute.org; dbSNP rs201565932). Computationa l prediction tools and conservation analyses do not provide strong support for o r against an impact to the protein. In summary, while the clinical significance of the p.Lys3945Glu variant is uncertain, these data suggest that it is more lik ely to be benign.
GeneDx RCV001697191 SCV000718022 likely benign not provided 2021-02-22 criteria provided, single submitter clinical testing
Invitae RCV000643855 SCV000765542 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-28 criteria provided, single submitter clinical testing

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