ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.39819_39820delinsTT (p.Pro13274Ser)

dbSNP: rs727503630
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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 RCV000152358 SCV000201277 uncertain significance not specified 2013-10-14 criteria provided, single submitter clinical testing The Pro10840Ser variant in TTN has not been previously reported in individuals w ith cardiomyopathy . This variant is a deletion and insertion of an equal number of bases that results in a missense change at the protein level, but does not a lter the protein reading frame. Computational analyses (biochemical amino acid p roperties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong s upport for or against an impact to the protein. Additional information is needed to fully assess the clinical significance of this variant.
Invitae RCV000643253 SCV000764940 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-09-18 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770049 SCV000901475 uncertain significance Cardiomyopathy 2015-09-21 criteria provided, single submitter clinical testing

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