ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.81856G>A (p.Val27286Ile) (rs372784067)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000040673 SCV000716101 likely benign not specified 2017-02-20 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.
Invitae RCV000643291 SCV000764978 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare 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.

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