ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.1892G>A (p.Arg631Lys)

gnomAD frequency: 0.00001  dbSNP: rs1057520698
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703564 SCV000517018 uncertain significance not provided 2020-02-20 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001851050 SCV002126010 uncertain significance Dilated cardiomyopathy 1KK 2021-10-26 criteria provided, single submitter clinical testing This sequence change replaces arginine with lysine at codon 631 of the MYPN protein (p.Arg631Lys). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and lysine. This variant is not present in population databases (ExAC 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: 379702). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV004984868 SCV005458976 uncertain significance Cardiovascular phenotype 2024-07-04 criteria provided, single submitter clinical testing The p.R631K variant (also known as c.1892G>A), located in coding exon 9 of the MYPN gene, results from a G to A substitution at nucleotide position 1892. The arginine at codon 631 is replaced by lysine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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