ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.1240G>A (p.Glu414Lys) (rs117749531)

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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 RCV000150185 SCV000197105 uncertain significance not specified 2014-08-27 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Glu414Lys varia nt in BAG3 has not been previously reported in individuals with cardiomyopathy, but has been identified in 3/8600 European American chromosomes by the NHLBI Exo me Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs117749531). Gl utamic acid (Glu) at position 414 is not conserved in mammals or evolutionarily distant species, raising the possibility that a change at this position may be t olerated. Additional computational prediction tools suggest that this variant ma y not impact the protein, though this information is not predictive enough to ru le out pathogenicity. In summary, while the clinical significance of the Glu414L ys variant is uncertain, these data suggest that it is more likely to be benign.
Illumina Clinical Services Laboratory,Illumina RCV000296394 SCV000360595 likely benign Myofibrillar Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000335067 SCV000360596 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000836269 SCV000650659 benign not provided 2019-02-05 criteria provided, single submitter clinical testing
GeneDx RCV000836269 SCV000978110 likely benign not provided 2018-04-20 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.

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