ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.34571G>A (p.Arg11524Gln) (rs201622536)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725081 SCV000333853 uncertain significance not provided 2017-12-12 criteria provided, single submitter clinical testing
GeneDx RCV000280444 SCV000237108 likely benign not specified 2017-12-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000560087 SCV000643024 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2018-01-02 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000280444 SCV000710960 likely benign not specified 2017-07-27 criteria provided, single submitter clinical testing p.Arg10223Gln in exon 145 of TTN: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, gibbon, naked mole rat, chinchilla, cat, shrew, and manatee have a Gln at this position despite high nearby amino acid conservation. In addition, computa tional prediction tools do not suggest a high likelihood of impact to the protei n. It has also been identified in 19/20406 African chromosomes by the Genome Agg regation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs201622536).

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