ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.75504T>G (p.Ser25168Arg) (rs375204371)

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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,Partners HealthCare Personalized Medicine RCV000154919 SCV000204601 uncertain significance not specified 2015-05-16 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Ser22600Arg v ariant in TTN has not been reported in any other families with DCM, but has been identified in 0.1% (12/9798) of African chromosomes by the Exome Aggregation Co nsortium (ExAC,; dbSNP rs375204371). Computationa l prediction tools and conservation analysis do not provide strong support for o r against an impact to the protein. In summary, while the clinical significance of the p.Ser22600Arg variant is uncertain, its frequency suggests that it is mor e likely to be benign.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725368 SCV000336408 uncertain significance not provided 2015-10-13 criteria provided, single submitter clinical testing
GeneDx RCV000154919 SCV000714407 likely benign not specified 2017-12-06 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.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768927 SCV000900300 uncertain significance Cardiomyopathy 2016-10-12 criteria provided, single submitter clinical testing
Invitae RCV001087044 SCV001006527 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-17 criteria provided, single submitter clinical testing

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