ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.3125G>A (p.Arg1042His)

gnomAD frequency: 0.00003  dbSNP: rs140439935
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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 RCV000529127 SCV000659201 uncertain significance Dilated cardiomyopathy 1KK 2022-06-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1042 of the MYPN protein (p.Arg1042His). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 477756). This variant has not been reported in the literature in individuals affected with MYPN-related conditions. This variant is present in population databases (rs140439935, gnomAD 0.01%).
Mayo Clinic Laboratories, Mayo Clinic RCV002261123 SCV002541075 uncertain significance not provided 2021-10-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002325105 SCV002607364 uncertain significance Cardiovascular phenotype 2022-03-09 criteria provided, single submitter clinical testing The p.R1042H variant (also known as c.3125G>A), located in coding exon 14 of the MYPN gene, results from a G to A substitution at nucleotide position 3125. The arginine at codon 1042 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. 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.

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