ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.3305C>T (p.Pro1102Leu)

gnomAD frequency: 0.00004  dbSNP: rs201693405
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622040 SCV000740252 uncertain significance Cardiovascular phenotype 2021-10-13 criteria provided, single submitter clinical testing The p.P1102L variant (also known as c.3305C>T), located in coding exon 16 of the MYPN gene, results from a C to T substitution at nucleotide position 3305. The proline at codon 1102 is replaced by leucine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001218437 SCV001390319 uncertain significance Dilated cardiomyopathy 1KK 2019-07-02 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 1102 of the MYPN protein (p.Pro1102Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs201693405, ExAC 0.002%). This variant has not been reported in the literature in individuals with MYPN-related conditions. ClinVar contains an entry for this variant (Variation ID: 520383). 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: "Deleterious"; 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 RCV001566793 SCV001790365 uncertain significance not provided 2019-10-21 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 520383; Landrum et al., 2016); 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

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