ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.81856G>A (p.Val27286Ile)

gnomAD frequency: 0.00011  dbSNP: rs372784067
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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, Mass General Brigham Personalized Medicine RCV000040673 SCV000064364 uncertain significance not specified 2012-10-31 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Val24718Ile var iant in TTN has not been reported in the literature nor previously identified by our laboratory. This variant has been identified in 1/3849 African American chr omosomes from a broad population by the NHLBI Exome Sequencing Project (http://e vs.gs.washington.edu/EVS). Valine (Val) at position 24718 is not conserved in ev olution, and multiple mammals have an isoleucine (Ile) at this position despite high nearby amino acid conservation. This and other computational analyses (bioc hemical properties, AlignGVGD, PolyPhen2, and SIFT) suggest that this variant ma y not impact the protein, though this information is not predictive enough to ru le out pathogenicity. In summary, this variant is less likely disease causing bu t additional studies are needed to fully assess its clinical significance.
GeneDx RCV001697136 SCV000716101 likely benign not provided 2019-06-17 criteria provided, single submitter clinical testing
Invitae RCV000643291 SCV000764978 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001697136 SCV003820259 uncertain significance not provided 2019-06-25 criteria provided, single submitter clinical testing

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