ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.2015T>C (p.Leu672Pro)

dbSNP: rs750020097
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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 RCV001050715 SCV001214836 uncertain significance Dilated cardiomyopathy 1KK 2022-07-22 criteria provided, single submitter clinical testing This variant is present in population databases (rs750020097, gnomAD 0.003%). 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. 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. ClinVar contains an entry for this variant (Variation ID: 847213). This variant has not been reported in the literature in individuals affected with MYPN-related conditions. This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 672 of the MYPN protein (p.Leu672Pro).

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