ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.1805T>C (p.Leu602Pro)

dbSNP: rs779148735
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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 RCV001318746 SCV001509459 uncertain significance Dilated cardiomyopathy 1KK 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 602 of the MYPN protein (p.Leu602Pro). This variant is present in population databases (rs779148735, gnomAD 0.002%). 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: 1019325). 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 disruptive. 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 RCV002412027 SCV002710850 uncertain significance Cardiovascular phenotype 2022-09-16 criteria provided, single submitter clinical testing The p.L602P variant (also known as c.1805T>C), located in coding exon 9 of the MYPN gene, results from a T to C substitution at nucleotide position 1805. The leucine at codon 602 is replaced by proline, an amino acid with similar properties. This amino acid position is conserved. 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.
Fulgent Genetics, Fulgent Genetics RCV002499617 SCV002779753 uncertain significance Dilated cardiomyopathy 1KK; MYPN-related myopathy 2021-09-15 criteria provided, single submitter clinical testing
GeneDx RCV004774399 SCV005386099 uncertain significance not provided 2024-02-26 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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