ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.121C>T (p.Pro41Ser)

gnomAD frequency: 0.00001  dbSNP: rs759400657
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621178 SCV000736962 uncertain significance Cardiovascular phenotype 2017-12-12 criteria provided, single submitter clinical testing The p.P41S variant (also known as c.121C>T), located in coding exon 1 of the MYPN gene, results from a C to T substitution at nucleotide position 121. The proline at codon 41 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and serine is the reference amino acid in other vertebrate species. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001362433 SCV001558449 uncertain significance Dilated cardiomyopathy 1KK 2024-01-02 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 41 of the MYPN protein (p.Pro41Ser). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 519049). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.

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