ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.1586A>C (p.Gln529Pro)

dbSNP: rs1158070956
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002024453 SCV002307961 uncertain significance Dilated cardiomyopathy 1KK 2024-10-08 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 529 of the MYPN protein (p.Gln529Pro). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MYPN-related conditions. ClinVar contains an entry for this variant (Variation ID: 1519228). 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.
Ambry Genetics RCV002398120 SCV002705980 uncertain significance Cardiovascular phenotype 2023-10-08 criteria provided, single submitter clinical testing The p.Q529P variant (also known as c.1586A>C), located in coding exon 8 of the MYPN gene, results from an A to C substitution at nucleotide position 1586. The glutamine at codon 529 is replaced by proline, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV004794574 SCV005415390 uncertain significance not provided 2024-05-22 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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