ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.2695A>C (p.Asn899His)

gnomAD frequency: 0.00002  dbSNP: rs774900760
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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 RCV001898324 SCV002160751 uncertain significance Dilated cardiomyopathy 1KK 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with histidine, which is basic and polar, at codon 899 of the MYPN protein (p.Asn899His). This variant is present in population databases (rs774900760, gnomAD 0.007%). 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: 1393583). 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 histidine 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 RCV002440984 SCV002745346 uncertain significance Cardiovascular phenotype 2019-06-06 criteria provided, single submitter clinical testing The p.N899H variant (also known as c.2695A>C), located in coding exon 11 of the MYPN gene, results from an A to C substitution at nucleotide position 2695. The asparagine at codon 899 is replaced by histidine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and histidine 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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