ClinVar Miner

Submissions for variant NM_032578.3(MYPN):c.458A>G (p.Lys153Arg) (rs199476401)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Molecular Biology and Genetics,Federal Almazov North-West Medical Research Centre RCV000512643 SCV000608342 likely pathogenic Primary dilated cardiomyopathy 2017-10-10 criteria provided, single submitter research The patient had early onset dilated cardiomyopathy and LVNC presented at 12 years old and subjected to Htx at 14 y.o. No familial history of cardiac disorders was reported.
Invitae RCV000206978 SCV000961979 uncertain significance Dilated cardiomyopathy 1KK 2018-12-04 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 153 of the MYPN protein (p.Lys153Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with hypertrophic cardiomyopathy (PMID: 22286171). ClinVar contains an entry for this variant (Variation ID: 31812). A single experimental study has shown that this missense change does not alter MYPN-CARP binding (PMID: 22286171). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Leiden Muscular Dystrophy (MYPN) RCV000024505 SCV000045809 not provided not provided 2012-04-27 no assertion provided curation
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000206978 SCV000244002 uncertain significance Dilated cardiomyopathy 1KK 2013-06-27 no assertion criteria provided literature only

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