ClinVar Miner

Submissions for variant NM_032578.3(MYPN):c.3169C>T (p.Arg1057Ter) (rs1057519572)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000764911 SCV000896073 uncertain significance Dilated cardiomyopathy 1KK; Nemaline myopathy 11, autosomal recessive 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000578871 SCV000680854 uncertain significance not provided 2016-06-15 criteria provided, single submitter clinical testing The R1057X variant of uncertain significance in the MYPN gene has not been published as a pathogenic variant, norhas it been reported as a benign variant to our knowledge. R1057X was not observed in approximately 6,500individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is nota common benign variant in these populations. The R1057X variant is predicted to cause loss of normal proteinfunction due to production of an abnormal, prematurely truncated protein or by absence of protein product due tononsense mediated mRNA decay. However, the majority of reported variants in the MYPN gene are missense,suggesting haploinsufficiency of MYPN may not be sufficient to cause cardiomyopathy (Stenson et al., 2014).Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
OMIM RCV000417054 SCV000494598 pathogenic Nemaline myopathy 11, autosomal recessive 2017-02-08 no assertion criteria provided literature only

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