ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.2317A>G (p.Lys773Glu)

dbSNP: rs760331604
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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 RCV000685729 SCV000813222 uncertain significance Dilated cardiomyopathy 1KK 2021-05-08 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with MYPN-related disease. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces lysine with glutamic acid at codon 773 of the MYPN protein (p.Lys773Glu). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and glutamic acid.
GeneDx RCV001771931 SCV002002051 uncertain significance not provided 2020-01-29 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 566021; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Ambry Genetics RCV002442417 SCV002734968 uncertain significance Cardiovascular phenotype 2021-11-05 criteria provided, single submitter clinical testing The p.K773E variant (also known as c.2317A>G), located in coding exon 10 of the MYPN gene, results from an A to G substitution at nucleotide position 2317. The lysine at codon 773 is replaced by glutamic acid, an amino acid with 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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