ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.635A>T (p.Glu212Val) (rs769951937)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute RCV000584812 SCV000692526 uncertain significance Familial hypertrophic cardiomyopathy 1 2017-03-28 criteria provided, single submitter research The TPM1 Glu212Val variant is present in the large Exome Aggregation Consortium dataset (http://exac.broadinstitute.org/) as a singleton event and is absent in the 1000 genomes project (http://www.1000genomes.org/). We identified this variant in a HCM proband (IVS= 22mm) with no family history of disease. Computational tools SIFT, PolyPhen-2, PolyPhen-HCM and MutationTaster all predict this variant to have a deleterious effect. In summary, based on the limited available information and rarity in the general population, we classify TPM1 Glu212Val as a variant of "uncertain significance".

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