ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.83543T>C (p.Ile27848Thr)

gnomAD frequency: 0.00001  dbSNP: rs397517723
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Total submissions: 2
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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 RCV000040695 SCV000064386 uncertain significance not specified 2013-03-06 criteria provided, single submitter clinical testing The Ile25280Thr variant in TTN has not been reported in the literature, but has been identified by our laboratory in 1 Caucasian individual with reduced ejectio n fraction and left anterior hemiblock (LMM unpublished data). However, this var iant did not segregate two affected individuals, one with DCM and one with left anterior hemiblock. This variant has not been identified in large and broad Euro pean American and African American populations by the NHLBI Exome Sequencing Pro ject (http://evs.gs.washington.edu/EVS/), though it may be common in other popul ations. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. While the lack of segregation with disease suggests that this variant is not a primary contributor to disease, we cannot rule out a modi fying role. At this time, additional studies are needed to fully assess the clin ical significance of the Ile25280Thr variant.
Invitae RCV000643512 SCV000765199 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-29 criteria provided, single submitter clinical testing

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