ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.3136A>C (p.Thr1046Pro)

gnomAD frequency: 0.00001  dbSNP: rs374007615
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001212270 SCV001383850 uncertain significance Dilated cardiomyopathy 1KK 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 1046 of the MYPN protein (p.Thr1046Pro). This variant is present in population databases (rs374007615, gnomAD 0.02%). 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: 942308). 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. 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.
GeneDx RCV001587228 SCV001823229 uncertain significance not provided 2019-12-17 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Ambry Genetics RCV002322031 SCV002610588 uncertain significance Cardiovascular phenotype 2022-01-19 criteria provided, single submitter clinical testing The p.T1046P variant (also known as c.3136A>C), located in coding exon 14 of the MYPN gene, results from an A to C substitution at nucleotide position 3136. The threonine at codon 1046 is replaced by proline, 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.
Fulgent Genetics, Fulgent Genetics RCV002497724 SCV002816126 uncertain significance Dilated cardiomyopathy 1KK; MYPN-related myopathy 2021-09-10 criteria provided, single submitter clinical testing

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