ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.2642A>T (p.Asn881Ile)

gnomAD frequency: 0.00007  dbSNP: rs71584493
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000024503 SCV000589427 uncertain significance not provided 2020-01-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 31810; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 18006477, 32880476)
Labcorp Genetics (formerly Invitae), Labcorp RCV000698832 SCV000827521 uncertain significance Dilated cardiomyopathy 1KK 2024-11-19 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 881 of the MYPN protein (p.Asn881Ile). This variant is present in population databases (rs71584493, gnomAD 0.008%). This missense change has been observed in individual(s) with dilated cardiomyopathy (PMID: 32880476). ClinVar contains an entry for this variant (Variation ID: 31810). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000024503 SCV001716066 uncertain significance not provided 2021-01-08 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (MYPN) RCV000024503 SCV000045807 not provided not provided 2012-04-27 no assertion provided curation
Blueprint Genetics RCV000157383 SCV000207121 uncertain significance Primary familial hypertrophic cardiomyopathy 2014-03-03 no assertion criteria provided clinical testing

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