ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.212A>G (p.Glu71Gly)

gnomAD frequency: 0.00001  dbSNP: rs1161067131
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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 RCV002022207 SCV002261576 uncertain significance Dilated cardiomyopathy 1KK 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glycine at codon 71 of the MYPN protein (p.Glu71Gly). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and glycine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
AiLife Diagnostics, AiLife Diagnostics RCV002224130 SCV002501809 uncertain significance not provided 2021-07-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002423188 SCV002726116 uncertain significance Cardiovascular phenotype 2024-10-07 criteria provided, single submitter clinical testing The p.E71G variant (also known as c.212A>G), located in coding exon 1 of the MYPN gene, results from an A to G substitution at nucleotide position 212. The glutamic acid at codon 71 is replaced by glycine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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