ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.133G>C (p.Gly45Arg)

gnomAD frequency: 0.00001  dbSNP: rs1297861595
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001927820 SCV002171527 uncertain significance Dilated cardiomyopathy 1KK 2021-08-27 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals affected with MYPN-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with arginine at codon 45 of the MYPN protein (p.Gly45Arg). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and arginine.
Ambry Genetics RCV003167091 SCV003854103 uncertain significance Cardiovascular phenotype 2023-02-08 criteria provided, single submitter clinical testing The p.G45R variant (also known as c.133G>C), located in coding exon 1 of the MYPN gene, results from a G to C substitution at nucleotide position 133. The glycine at codon 45 is replaced by arginine, 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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