ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.702G>C (p.Lys234Asn)

dbSNP: rs1589529109
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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 RCV002048009 SCV002289501 uncertain significance Dilated cardiomyopathy 1KK 2022-03-23 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 234 of the MYPN protein (p.Lys234Asn). 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. 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 RCV002370699 SCV002667075 uncertain significance Cardiovascular phenotype 2021-01-10 criteria provided, single submitter clinical testing The p.K234N variant (also known as c.702G>C), located in coding exon 1 of the MYPN gene, results from a G to C substitution at nucleotide position 702. The lysine at codon 234 is replaced by asparagine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and asparagine is the reference amino acid in other vertebrate species. 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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