ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.83299C>A (p.Pro27767Thr) (rs184643087)

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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,Partners HealthCare Personalized Medicine RCV000040693 SCV000064384 uncertain significance not specified 2014-03-19 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Pro25199Thr var iant in TTN has been detected in 0.2% (7/3804) of African American chromosomes b y the NHLBI Exome Sequencing Project (; dbSNP r s184643087). Computational prediction tools and conservation analysis suggest th at this variant may impact the protein, though this information is not predictiv e enough to determine pathogenicity. In summary, the frequency of this variant s uggests that it is more likely benign but is too low to confidently rule out a d isease-causing role. Additional information is needed to fully assess the clinic al significance of this variant.
GeneDx RCV000040693 SCV000237645 likely benign not specified 2017-11-30 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725532 SCV000337568 uncertain significance not provided 2017-04-18 criteria provided, single submitter clinical testing
Invitae RCV001087252 SCV000764751 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-26 criteria provided, single submitter clinical testing

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