ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.2503C>A (p.Pro835Thr)

dbSNP: rs1196958004
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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 RCV000704768 SCV000833731 uncertain significance Dilated cardiomyopathy 1KK 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces proline with threonine at codon 835 of the MYPN protein (p.Pro835Thr). The proline residue is highly conserved and there is a small physicochemical difference between proline and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with MYPN-related conditions. 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.
Ambry Genetics RCV002458304 SCV002739063 uncertain significance Cardiovascular phenotype 2021-01-27 criteria provided, single submitter clinical testing The p.P835T variant (also known as c.2503C>A), located in coding exon 10 of the MYPN gene, results from a C to A substitution at nucleotide position 2503. The proline at codon 835 is replaced by threonine, an amino acid with highly similar properties. This alteration has been reported in a dilated cardiomyopathy (DCM) cohort (Mazzarotto F et al. Circulation, 2020 02;141:387-398). 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.
Fulgent Genetics, Fulgent Genetics RCV002499269 SCV002806177 uncertain significance Dilated cardiomyopathy 1KK; MYPN-related myopathy 2021-12-08 criteria provided, single submitter clinical testing

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