ClinVar Miner

Submissions for variant NM_032578.3(MYPN):c.2644G>A (p.Ala882Thr) (rs199476411)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619353 SCV000735458 uncertain significance Cardiovascular phenotype 2016-07-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000206957 SCV000244015 uncertain significance Dilated cardiomyopathy 1KK 2013-06-27 no assertion criteria provided literature only
Invitae RCV000206957 SCV000659194 uncertain significance Dilated cardiomyopathy 1KK 2018-04-11 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 882 of the MYPN protein (p.Ala882Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs199476411, ExAC 0.01%). This variant has been reported in 2 individuals affected with dilated cardiomyopathy (PMID: 22286171). ClinVar contains an entry for this variant (Variation ID: 31821). This variant has also been reported as c.2546G>A. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on MYPN function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Leiden Muscular Dystrophy (MYPN) RCV000024514 SCV000045818 not provided not provided 2012-04-27 no assertion provided curation

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