ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.3704C>A (p.Pro1235Gln)

dbSNP: rs770747268
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002632747 SCV003509303 uncertain significance Dilated cardiomyopathy 1KK 2022-07-15 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with MYPN-related conditions. This sequence change replaces proline, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 1235 of the MYPN protein (p.Pro1235Gln). This variant is not present in population databases (gnomAD no frequency).

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