ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.128A>G (p.His43Arg)

dbSNP: rs752439535
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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 RCV002008229 SCV002268164 uncertain significance Dilated cardiomyopathy 1KK 2022-01-14 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. This variant has not been reported in the literature in individuals affected with MYPN-related conditions. This variant is present in population databases (rs752439535, gnomAD 0.002%). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 43 of the MYPN protein (p.His43Arg).
Ambry Genetics RCV003170380 SCV003860068 uncertain significance Cardiovascular phenotype 2022-12-14 criteria provided, single submitter clinical testing The p.H43R variant (also known as c.128A>G), located in coding exon 1 of the MYPN gene, results from an A to G substitution at nucleotide position 128. The histidine at codon 43 is replaced by arginine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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