ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.2881C>G (p.Pro961Ala)

gnomAD frequency: 0.00003  dbSNP: rs139996402
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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 RCV001231623 SCV001404151 uncertain significance Dilated cardiomyopathy 1KK 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 961 of the MYPN protein (p.Pro961Ala). This variant is present in population databases (rs139996402, gnomAD 0.01%). 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: 958452). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV001587259 SCV001825200 uncertain significance not provided 2019-09-13 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); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Ambry Genetics RCV002436904 SCV002751269 uncertain significance Cardiovascular phenotype 2024-08-28 criteria provided, single submitter clinical testing The p.P961A variant (also known as c.2881C>G), located in coding exon 12 of the MYPN gene, results from a C to G substitution at nucleotide position 2881. The proline at codon 961 is replaced by alanine, 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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