ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.2183C>A (p.Pro728His)

dbSNP: rs570682390
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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 RCV001065412 SCV001230368 uncertain significance Dilated cardiomyopathy 1KK 2023-04-12 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 859328). This variant has not been reported in the literature in individuals affected with MYPN-related conditions. This variant is present in population databases (rs570682390, gnomAD 0.01%). This sequence change replaces proline, which is neutral and non-polar, with histidine, which is basic and polar, at codon 728 of the MYPN protein (p.Pro728His).

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