ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.80G>C (p.Arg27Pro)

gnomAD frequency: 0.00001  dbSNP: rs529359915
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000216739 SCV000272194 uncertain significance not specified 2015-11-23 criteria provided, single submitter clinical testing The p.Arg27Pro variant in MYPN has not been previously reported in individuals w ith cardiomyopathy, but has been identified in 4/66632 European chromosomes by t he Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs5 29359915). Arginine (Arg) at position 27 is not well conserved in mammals or evo lutionarily distant species and the star-nose mole and painted turtle carry a pr oline (Pro), raising the possibility that this change may be tolerated. Addition al computational prediction tools do not provide strong support for or against a n impact to the protein. In summary, the clinical significance of the p.Arg27Pro variant is uncertain.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000216739 SCV000740642 uncertain significance not specified 2016-12-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000655039 SCV000776961 uncertain significance Dilated cardiomyopathy 1KK 2023-01-18 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 229040). This variant has not been reported in the literature in individuals affected with MYPN-related conditions. This variant is present in population databases (rs529359915, gnomAD 0.004%). This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 27 of the MYPN protein (p.Arg27Pro).
Ambry Genetics RCV003165542 SCV003854093 uncertain significance Cardiovascular phenotype 2022-12-17 criteria provided, single submitter clinical testing The p.R27P variant (also known as c.80G>C), located in coding exon 1 of the MYPN gene, results from a G to C substitution at nucleotide position 80. The arginine at codon 27 is replaced by proline, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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