ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.1996A>G (p.Thr666Ala) (rs374000722)

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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, Partners HealthCare Personalized Medicine RCV000041171 SCV000064862 uncertain significance not specified 2012-07-07 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Thr666Ala varia nt in NEXN has been identified in 1/6546 European American chromosomes from a br oad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.e du/EVS/); this may represent a presymptomatic individual. Our laboratory has ide ntified this variant in one individual with early onset DCM who carried a second variant of unknown significance. While one parent had DCM, both variants were i nherited from the unaffected parent, suggesting that they are not the primary ca use of disease in this family. Computational analyses (biochemical amino acid pr operties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong su pport for or against an impact to the normal function of the protein. In summary , additional information is needed to fully assess the clinical significance of the Thr666Ala variant.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845374 SCV000987432 uncertain significance Primary familial hypertrophic cardiomyopathy criteria provided, single submitter clinical testing

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